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

1–12 of 435 variants

44 papers

NM_001256317.3

p.A306T

c.916G>A

43 papers

NM_001256317.3

p.H70delFs

c.208delG

34 papers

NM_001256317.3

p.A138E

c.413C>A

27 papers

NM_001256317.3

p.V108Splc

c.323-6G>A

27 papers

NM_001256317.3

p.R109W

c.325C>T

21 papers

NM_001256317.3

p.W251C

c.753G>C

20 papers

NM_001256317.3

p.R216C

c.646C>T

20 papers

NM_001256317.3

p.T248M

c.743C>T

19 papers

NM_001256317.3

p.C194F

c.581G>T

19 papers

NM_001256317.3

p.W251C

c.753G>T

16 papers

NM_001256317.3

p.D103G

c.308A>G

16 papers

NM_001256317.3

p.R216L

c.647G>T