Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS5
Variant:p.H241R

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.H241R
c.722A>G
Surrounding Variants
1 paper
NM_030770.4
p.T242M
c.725C>T
2 papers
NM_030770.4
p.A233G
c.698C>G
1 paper
NM_030770.4
p.Q232P
c.695A>C
1 paper
NM_030770.4
p.P230P
c.690G>T
1 paper
NM_030770.4
p.R228H
c.683G>A
1 paper
NM_030770.4
p.G221W
c.661G>T
1 paper
NM_030770.4
p.E208K
c.622G>A
1 paper
NM_030770.4
p.G199R
c.595G>C
1 paper
NM_030770.4
p.R193M
c.578G>T
1 paper
NM_030770.4
p.V283A
c.848T>C
1 paper
NM_030770.4
p.Q303Q
c.909G>A
1 paper
NM_030770.4
p.R313S
c.939G>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."