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

19 papers

NM_001256317.3

p.C194F

c.581G>T

Surrounding Variants

10 papers

NM_001256317.3

p.G193insFs

c.579dupA

4 papers

NM_001256317.3

p.C194*

c.582T>A

6 papers

NM_001256317.3

p.C194fs

c.580_581fs

2 papers

NM_001256317.3

p.A195T

c.583G>A

1 paper

NM_001256317.3

p.G197R

c.589G>C

1 paper

NM_001256317.3

p.G197S

c.589G>A

10 papers

NM_001256317.3

p.V199M

c.595G>A

2 papers

NM_001256317.3

p.V200I

c.598G>A

13 papers

NM_001256317.3

p.Q203*

c.607C>T

NM_032404.3

p.Q76*

c.226C>T

2 papers

NM_001256317.3

p.Q203K

c.607C>A

1 paper

NM_001256317.3

p.C204G

c.610T>G

1 paper

NM_032404.3

p.C77R

c.229T>C