Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS4

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
1–12 of 64 variants
5 papers
NM_019894.4
p.V208G
c.623T>G
4 papers
NM_019894.4
p.S405S
c.1215T>C
3 papers
NM_019894.4
p.K198E
c.592A>G
3 papers
NM_019894.4
p.P413L
c.1238C>T
2 papers
NM_019894.4
p.R177Q
c.530G>A
1 paper
NM_019894.4
p.M1_L2Splc
c.4-7141G>A
1 paper
NM_019894.4
p.M1_L2Splc
c.4-2A>T
1 paper
NM_019894.4
p.M1_L2Splc
c.4-1A>G
1 paper
NM_019894.4
p.Q3insFs
c.8_9insT
1 paper
NM_019894.4
p.Q3L
c.8A>T
1 paper
NM_019894.4
p.K31M
c.92A>T
1 paper
NM_019894.4
p.S42insFs
c.125_126ins4
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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."