Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS5
Variant:p.A142T

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.A142T
c.424G>A
Surrounding Variants
1 paper
NM_030770.4
p.G138V
c.413G>T
1 paper
NM_030770.4
p.G138C
c.412G>T
1 paper
NM_030770.4
p.E137D
c.411G>T
1 paper
NM_030770.4
p.E137D
c.411G>C
1 paper
NM_030770.4
p.P129delFs
c.385delG
1 paper
NM_030770.4
p.V125M
c.373G>A
1 paper
NM_030770.4
p.A123P
c.367G>C
1 paper
NM_030770.4
p.T157A
c.469A>G
1 paper
NM_030770.4
p.T165A
c.493A>G
1 paper
NM_030770.4
p.Q173delFs
c.517delG
1 paper
NM_030770.4
p.G183E
c.548G>A
1 paper
NM_030770.4
p.R193M
c.578G>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."