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

27 papers

NM_001256317.3

p.R109W

c.325C>T

Surrounding Variants

7 papers

NM_001256317.3

p.R109Q

c.326G>A

3 papers

NM_001256317.3

p.V108fs

c.322_323fs

1 paper

NM_001256317.3

p.V108F

c.322G>T

1 paper

NM_001256317.3

p.V110M

c.328G>A

7 papers

NM_001256317.3

p.G111S

c.331G>A

27 papers

NM_001256317.3

p.V108Splc

c.323-6G>A

1 paper

NM_001256317.3

p.V108Splc

c.323-8T>C

1 paper

NM_001256317.3

p.G112V

c.335G>T

1 paper

NM_001256317.3

p.Q113delFs

c.337delG

1 paper

NM_001256317.3

p.Q113Q

c.339G>A

13 papers

NM_001256317.3

p.V116M

c.346G>A

1 paper

NM_001256317.3

p.Q118*

c.352C>T