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.T254S

c.760A>T

Surrounding Variants

3 papers

NM_001256317.3

p.A255S

c.763G>T

12 papers

NM_001256317.3

p.I253V

c.757A>G

19 papers

NM_001256317.3

p.W251C

c.753G>T

21 papers

NM_001256317.3

p.W251C

c.753G>C

8 papers

NM_001256317.3

p.A256V

c.767C>T

1 paper

NM_001256317.3

p.L250delFs

c.749delA

1 paper

NM_032404.3

p.H130R

c.389A>G

6 papers

NM_032404.3

p.H130Q

c.390C>G

NM_001256317.3

p.H257Q

c.771C>G

4 papers

NM_001256317.3

p.H257Q

c.771C>A

1 paper

NM_001256317.3

p.L250fs

c.748_749fs

1 paper

NM_001256317.3

p.C258Y

c.773G>A

2 papers

NM_001256317.3

p.P249L

c.746C>T