Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS4
Variant:p.T332M

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.T332M
c.995C>T
Surrounding Variants
1 paper
NM_019894.4
p.I327T
c.980T>C
1 paper
NM_019894.4
p.E317*
c.949G>T
1 paper
NM_019894.4
p.A346A
c.1038G>A
1 paper
NM_019894.4
p.N357Y
c.1069A>T
1 paper
NM_019894.4
p.D360Y
c.1078G>T
1 paper
NM_019894.4
p.A373V
c.1118C>T
1 paper
NM_019894.4
p.Q384_G385Splc
c.1152+1G>T
1 paper
NM_019894.4
p.G304Splc
c.910+1G>T
1 paper
NM_019894.4
p.I291F
c.871A>T
1 paper
NM_019894.4
p.M284_K287del0
c.851_859del9
1 paper
NM_019894.4
p.I278T
c.833T>C
1 paper
NM_019894.4
p.A272V
c.815C>T
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