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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TM4SF20

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

1–12 of 42 variants

4 papers

chr2:227366229 G>A

NM_024795.4

p.L89F

c.265C>T

L6_membrane

Exome: 13.8% (AC=200708, hom=14486)Genome: 10.5% (AC=15943, hom=1062)56 overlapping SVs

2 papers

chr2:227366120 T>C

NM_024795.4

p.N125S

c.374A>G

L6_membrane

Exome: 1.1% (AC=16402, hom=691)Genome: 4.3% (AC=6542, hom=370)55 overlapping SVs

2 papers

chr2:227363746 T>G

NM_024795.4

p.K223T

c.668A>C

L6_membrane

Exome: 0.6% (AC=9240, hom=107)Genome: 0.5% (AC=701, hom=7)53 overlapping SVs

1 paper

chr2:227379244 A>C

NM_024795.4

p.S9A

c.25T>G

L6_membrane

Exome: 0.0% (AC=45, hom=0)Genome: 0.0% (AC=10, hom=0)54 overlapping SVs

1 paper

chr2:227379237 T>C

NM_024795.4

p.N11S

c.32A>G

L6_membrane

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=1, hom=0)54 overlapping SVs

1 paper

chr2:227379220 C>G

NM_024795.4

p.V17L

c.49G>C

L6_membrane

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

1 paper

chr2:227379219 A>G

NM_024795.4

p.V17A

c.50T>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

1 paper

chr2:227379206 T>G

NM_024795.4

p.L21F

c.63A>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

chr2:227379199 C>G

NM_024795.4

p.V24L

c.70G>C

L6_membrane

exact variant not in gnomAD54 overlapping SVs

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