Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS13
Variant:p.S506A

TMPRSS13

82 papers

RefSeq Summary

This gene encodes a member of the type II transmembrane serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-ri...

Pfam Domains

SRCR_2aa 231–321UCSCScavenger receptor cysteine-rich domain

Gene Aliases

HGNC Name

transmembrane serine protease 13

HGNC Previous Symbol

TMPRSS11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001077263.3
p.S506A
c.1516T>G
Surrounding Variants
1 paper
NM_001077263.3
p.Q508_G509Splc
c.1524+11C>A
1 paper
NM_001077263.3
p.Y489fs
c.1465_1466fs
1 paper
NM_001077263.3
p.Y489delFs
c.1465delA
2 papers
NM_001077263.3
p.R468Q
c.1403G>A
1 paper
NM_001077263.3
p.T533delFs
c.1598delG
1 paper
NM_001077263.3
p.Q440R
c.1319A>G
1 paper
NM_001077263.3
p.C434C
c.1302C>T
1 paper
NM_001077263.3
p.I430T
c.1289T>C
1 paper
NM_001077263.3
p.H389Y
c.1165C>T
1 paper
NM_001077263.3
p.W379*
c.1137G>A
1 paper
NM_001077263.3
p.W379*
c.1136G>A
1 paper
NM_001077263.3
p.C351Y
c.1052G>A
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