Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS4
Variant:p.S267G

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.S267G
c.799A>G
Surrounding Variants
1 paper
NM_019894.4
p.A272V
c.815C>T
1 paper
NM_019894.4
p.K257M
c.770A>T
1 paper
NM_019894.4
p.I278T
c.833T>C
1 paper
NM_019894.4
p.F254L
c.762C>A
1 paper
NM_019894.4
p.F254L
c.762C>G
1 paper
NM_019894.4
p.F254L
c.760T>C
1 paper
NM_019894.4
p.M284_K287del0
c.851_859del9
1 paper
NM_019894.4
p.I291F
c.871A>T
1 paper
NM_019894.4
p.G304Splc
c.910+1G>T
1 paper
NM_019894.4
p.R248K
c.743G>A
1 paper
NM_019894.4
p.V240I
c.718G>A
1 paper
NM_019894.4
p.H238L
c.713A>T
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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."