Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS4
Variant:p.S118L

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.S118L
c.353C>T
Surrounding Variants
1 paper
NM_019894.4
p.S125_A126ins4
c.373_377ins12
1 paper
NM_019894.4
p.P97L
c.290C>T
1 paper
NM_019894.4
p.L85delFs
c.255delG
1 paper
NM_019894.4
p.L85fs
c.253_254fs
1 paper
NM_019894.4
p.H69delFs
c.207delC
1 paper
NM_019894.4
p.L63_C64insFs
c.189_190insC
1 paper
NM_019894.4
p.Y60F
c.179A>T
1 paper
NM_019894.4
p.R175C
c.523C>T
2 papers
NM_019894.4
p.R177Q
c.530G>A
1 paper
NM_019894.4
p.V189_S190insC
c.565_569ins3
1 paper
NM_019894.4
p.C193S
c.577T>A
1 paper
NM_019894.4
p.C193S
c.578G>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."