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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TM4SF20

Variant:p.I28L

TM4SF20

27 papers

RefSeq Summary

The protein encoded by this gene is a member of the four-transmembrane L6 superfamily. Members of this family function in various cellular processes including cell proliferation, motility, and adhesio...

Pfam Domains

L6_membraneaa 2–223UCSCL6 membrane protein

Gene Aliases

HGNC Name

transmembrane 4 L six family member 20

HGNC Alias Symbols

FLJ22800; TCCE518

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:227379187 T>G

NM_024795.4

p.I28L

c.82A>C

L6_membrane

exact variant not in gnomAD54 overlapping SVs

Surrounding Variants

1 paper

chr2:227379187 T>A

NM_024795.4

p.I28L

c.82A>T

L6_membrane

exact variant not in gnomAD54 overlapping SVs

1 paper

chr2:227379186 A>G

NM_024795.4

p.I28T

c.83T>C

L6_membrane

Exome: 0.2% (AC=2542, hom=4)Genome: 0.2% (AC=258, hom=1)54 overlapping SVs

1 paper

chr2:227379189 G>A

NM_024795.4

p.A27V

c.80C>T

L6_membrane

Exome: 13.0% (AC=189304, hom=12528)Genome: 10.7% (AC=16251, hom=1045)54 overlapping SVs

1 paper

chr2:227379184 G>T

NM_024795.4

p.P29T

c.85C>A

L6_membrane

Exome: 0.1% (AC=776, hom=3)Genome: 0.0% (AC=40, hom=0)54 overlapping SVs

1 paper

chr2:227379183 G>A

NM_024795.4

p.P29L

c.86C>T

L6_membrane

exact variant not in gnomAD54 overlapping SVs

1 paper

chr2:227379192 T>C

NM_024795.4

p.N26S

c.77A>G

L6_membrane

Exome: 0.0% (AC=328, hom=0)Genome: 0.0% (AC=20, hom=0)54 overlapping SVs

1 paper

chr2:227379178 T>A

NM_024795.4

p.I31F

c.91A>T

L6_membrane

exact variant not in gnomAD54 overlapping SVs

1 paper

chr2:227379177 A>G

NM_024795.4

p.I31T

c.92T>C

L6_membrane

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=2, hom=0)54 overlapping SVs

1 paper

chr2:227379199 C>G

NM_024795.4

p.V24L

c.70G>C

L6_membrane

exact variant not in gnomAD54 overlapping SVs

1 paper

chr2:227379204 C>A

NM_024795.4

p.G22V

c.65G>T

L6_membrane

exact variant not in gnomAD54 overlapping SVs

1 paper

chr2:227379204 C>G

NM_024795.4

p.G22A

c.65G>C

L6_membrane

exact variant not in gnomAD54 overlapping SVs

1 paper

chr2:227379206 T>A

NM_024795.4

p.L21F

c.63A>T

L6_membrane

Exome: 0.0% (AC=1, hom=0)Genome: n/a54 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."