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_032404.3

p.P138R

c.413C>G

Surrounding Variants

1 paper

NM_032404.3

p.P138H

c.413C>A

1 paper

NM_001256317.3

p.Y263Y

c.789C>T

1 paper

NM_001256317.3

p.S267*

c.800C>G

1 paper

NM_001256317.3

p.S267*

c.800C>A

1 paper

NM_001256317.3

p.D261_L262insFs

c.783_784insA

2 papers

NM_001256317.3

p.D261Splc

c.783-1G>T

5 papers

NM_001256317.3

p.D261Splc

c.783-1G>A

5 papers

NM_001256317.3

p.I270N

c.809T>A

1 paper

NM_001256317.3

p.Q271*

c.811C>T

1 paper

NM_001256317.3

p.G273V

c.818G>T

1 paper

NM_001256317.3

p.V275F

c.823G>T

1 paper

NM_001256317.3

p.V275V

c.825T>A