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.E288K

c.862G>A

Surrounding Variants

1 paper

NM_001256317.3

p.I290F

c.868A>T

5 papers

NM_001256317.3

p.V291L

c.871G>C

2 papers

NM_001256317.3

p.H293Y

c.877C>T

1 paper

NM_001256317.3

p.N280insFs

c.840dupT

1 paper

NM_001256317.3

p.K299Q

c.895A>C

1 paper

NM_001256317.3

p.V275V

c.825T>A

1 paper

NM_001256317.3

p.V275F

c.823G>T

2 papers

NM_001256317.3

p.K299_R300del2

c.895_899del6

2 papers

NM_001256317.3

p.L301P

c.902T>C

1 paper

NM_001256317.3

p.G273V

c.818G>T

1 paper

NM_001256317.3

p.G302fs

c.904_905fs

2 papers

NM_001256317.3

p.N303Y

c.907A>T