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

3 papers

NM_001256317.3

p.C73Y

c.218G>A

Surrounding Variants

1 paper

NM_001256317.3

p.D72_C73ins9

c.214_218ins27

9 papers

NM_001256317.3

p.F71S

c.212T>C

1 paper

NM_001256317.3

p.G75_K76ins1

c.225_226insCAG

4 papers

NM_001256317.3

p.H70fs

c.208_209fs

43 papers

NM_001256317.3

p.H70delFs

c.208delG

1 paper

NM_001256317.3

p.K76_Y77insFs

c.228_229insT

1 paper

NM_001256317.3

p.H70N

c.208C>A

15 papers

NM_001256317.3

p.H70fs

c.208_209fs

1 paper

NM_001256317.3

p.Y77H

c.229T>C

1 paper

NM_001256317.3

p.I69Splc

c.206-1G>A

2 papers

NM_001256317.3

p.C79R

c.235T>C

1 paper

NM_001256317.3

p.R80C

c.238C>T