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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMPRSS4

Variant:p.V229I

TMPRSS4

62 papers

RefSeq Summary

This gene encodes a member of the serine protease family. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders....

Pfam Domains

SRCR_2aa 108–200UCSCScavenger receptor cysteine-rich domain

Trypsinaa 205–429UCSCTrypsin

Gene Aliases

HGNC Name

transmembrane serine protease 4

HGNC Alias Symbol

MT-SP2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr11:118111842 G>A

NM_019894.4

p.V229I

c.685G>A

SRCR_2 Trypsin

Exome: 0.0% (AC=31, hom=0)Genome: 0.0% (AC=3, hom=0)18 overlapping SVs

Surrounding Variants

1 paper

chr11:118111823 C>A

NM_019894.4

p.I222I

c.666C>A

SRCR_2 Trypsin

Exome: 0.1% (AC=903, hom=10)Genome: 0.1% (AC=170, hom=3)18 overlapping SVs

1 paper

chr11:118111867 C>A

NM_019894.4

p.P237H

c.710C>A

SRCR_2 Trypsin

exact variant not in gnomAD18 overlapping SVs

1 paper

chr11:118111815 G>A

NM_019894.4

p.V220I

c.658G>A

SRCR_2 Trypsin

Exome: 0.0% (AC=110, hom=0)Genome: 0.0% (AC=7, hom=0)18 overlapping SVs

1 paper

chr11:118111815 G>T

NM_019894.4

p.V220F

c.658G>T

SRCR_2 Trypsin

exact variant not in gnomAD18 overlapping SVs

1 paper

chr11:118111870 A>T

NM_019894.4

p.H238L

c.713A>T

SRCR_2 Trypsin

Exome: 0.0% (AC=1, hom=0)Genome: n/a18 overlapping SVs

1 paper

chr11:118111875 G>A

NM_019894.4

p.V240I

c.718G>A

SRCR_2 Trypsin

Exome: 0.0% (AC=1, hom=0)Genome: n/a18 overlapping SVs

1 paper

chr11:118111900 G>A

NM_019894.4

p.R248K

c.743G>A

Trypsin

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=4, hom=0)18 overlapping SVs

5 papers

chr11:118111780 T>G

NM_019894.4

p.V208G

c.623T>G

SRCR_2 Trypsin

Exome: 95.8% (AC=1389314, hom=665861)Genome: 96.6% (AC=147131, hom=71099)18 overlapping SVs

1 paper

chr11:118111775 G>A

NM_019894.4

p.V206V

c.618G>A

SRCR_2 Trypsin

exact variant not in gnomAD18 overlapping SVs

1 paper

chr11:118111758 A>C

NM_019894.4

p.K201Q

c.601A>C

SRCR_2

Exome: 0.0% (AC=0, hom=0)Genome: n/a18 overlapping SVs

3 papers

chr11:118111749 A>G

NM_019894.4

p.K198E

c.592A>G

SRCR_2

Exome: 1.7% (AC=24576, hom=1377)Genome: 7.5% (AC=11344, hom=1051)18 overlapping SVs

1 paper

chr11:118113285 T>C

NM_019894.4

p.F254L

c.760T>C

Trypsin

exact variant not in gnomAD18 overlapping SVs

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