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.I86V

c.256A>G

Surrounding Variants

1 paper

NM_001256317.3

p.K84N

c.252G>C

3 papers

NM_001256317.3

p.E87V

c.260A>T

1 paper

NM_001256317.3

p.S82delFs

c.246delG

2 papers

NM_001256317.3

p.A90P

c.268G>C

13 papers

NM_001256317.3

p.A90T

c.268G>A

1 paper

NM_001256317.3

p.A90V

c.269C>T

2 papers

NM_001256317.3

p.S81*

c.242C>G

2 papers

NM_001256317.3

p.S81*

c.242C>A

8 papers

NM_001256317.3

p.R91*

c.271C>T

2 papers

NM_001256317.3

p.R80H

c.239G>A

1 paper

NM_001256317.3

p.R80C

c.238C>T

2 papers

NM_001256317.3

p.C79R

c.235T>C