Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS4
Variant:p.V404A

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.V404A
c.1211T>C
Surrounding Variants
1 paper
NM_019894.4
p.I403N
c.1208T>A
4 papers
NM_019894.4
p.S405S
c.1215T>C
1 paper
NM_019894.4
p.G402V
c.1205G>T
1 paper
NM_019894.4
p.Y408*
c.1224T>A
1 paper
NM_019894.4
p.Y408*
c.1224T>G
1 paper
NM_019894.4
p.Q397E
c.1189C>G
1 paper
NM_019894.4
p.D396N
c.1186G>A
3 papers
NM_019894.4
p.P413L
c.1238C>T
1 paper
NM_019894.4
p.Y419C
c.1256A>G
1 paper
NM_019894.4
p.G389R
c.1165G>A
1 paper
NM_019894.4
p.G389R
c.1165G>C
1 paper
NM_019894.4
p.G388R
c.1162G>C
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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."