Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS4
Variant:p.C193S

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019894.4
p.C193S
c.578G>C
Surrounding Variants
1 paper
NM_019894.4
p.C193S
c.577T>A
1 paper
NM_019894.4
p.V189_S190insC
c.565_569ins3
2 papers
NM_019894.4
p.R177Q
c.530G>A
1 paper
NM_019894.4
p.R175C
c.523C>T
3 papers
NM_019894.4
p.K198E
c.592A>G
1 paper
NM_019894.4
p.K201Q
c.601A>C
1 paper
NM_019894.4
p.V206V
c.618G>A
5 papers
NM_019894.4
p.V208G
c.623T>G
1 paper
NM_019894.4
p.V220I
c.658G>A
1 paper
NM_019894.4
p.V220F
c.658G>T
1 paper
NM_019894.4
p.I222I
c.666C>A
1 paper
NM_019894.4
p.V229I
c.685G>A
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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."