Varaico: Literature-Extracted Genetic Variants

TMPRSS3

300 papers

RefSeq Summary

This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger rece...

Pfam Domains

Ldl_recept_aaa 72–107UCSCLow-density lipoprotein receptor domain class A

SRCR_2aa 112–211UCSCScavenger receptor cysteine-rich domain

Trypsinaa 217–444UCSCTrypsin

Gene Aliases

HGNC Name

transmembrane serine protease 3

HGNC Previous Symbols

DFNB10; DFNB8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001256317.3

p.L250fs

c.748_749fs

Surrounding Variants

1 paper

NM_001256317.3

p.L250delFs

c.749delA

2 papers

NM_001256317.3

p.P249L

c.746C>T

19 papers

NM_001256317.3

p.W251C

c.753G>T

21 papers

NM_001256317.3

p.W251C

c.753G>C

20 papers

NM_001256317.3

p.T248M

c.743C>T

1 paper

NM_001256317.3

p.T248S

c.742A>T

12 papers

NM_001256317.3

p.I253V

c.757A>G

1 paper

NM_001256317.3

p.V246V

c.738C>G

1 paper

NM_001256317.3

p.T254S

c.760A>T

3 papers

NM_001256317.3

p.S245F

c.734C>T

3 papers

NM_001256317.3

p.A255S

c.763G>T

1 paper

NM_001256317.3

p.G244V

c.731G>T