Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS5
Variant:p.S377Y

TMPRSS5

53 papers

RefSeq Summary

This gene encodes a protein that belongs to the serine protease family. Serine proteases are known to be involved in many physiological and pathological processes. Alternative splicing results in mult...

Pfam Domains

SRCR_2aa 72–169UCSCScavenger receptor cysteine-rich domain
Trypsinaa 174–404UCSCTrypsin

Gene Aliases

HGNC Name

transmembrane serine protease 5

HGNC Alias Symbols

MGC141886; MGC148044

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030770.4
p.S377Y
c.1130C>A
Surrounding Variants
1 paper
NM_030770.4
p.Y380fs
c.1138_1139fs
1 paper
NM_030770.4
p.A383S
c.1147G>T
1 paper
NM_030770.4
p.F369L
c.1107C>G
1 paper
NM_030770.4
p.F369L
c.1107C>A
1 paper
NM_030770.4
p.F369L
c.1105T>C
1 paper
NM_030770.4
p.L389L
c.1167T>C
1 paper
NM_030770.4
p.T364M
c.1091C>T
1 paper
NM_030770.4
p.A391S
c.1171G>T
1 paper
NM_030770.4
p.C401Y
c.1202G>A
1 paper
NM_030770.4
p.R427H
c.1280G>A
1 paper
NM_030770.4
p.G428C
c.1282G>T
1 paper
NM_030770.4
p.A430T
c.1288G>A
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