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.C142S

c.425G>C

Surrounding Variants

1 paper

NM_001256317.3

p.C142S

c.424T>A

1 paper

NM_001256317.3

p.Q144fs

c.430_431fs

3 papers

NM_032404.3

p.Q17fs

c.49_50fs

NM_001256317.3

p.Q144fs

c.430_431fs

1 paper

NM_001256317.3

p.L145L

c.433C>T

7 papers

NM_032404.3

p.Q17delFs

c.51delT

NM_001256317.3

p.Q144delFs

c.432delT

1 paper

NM_001256317.3

p.G146_F147ins4

c.436_440ins12

3 papers

NM_001256317.3

p.G146S

c.436G>A

5 papers

NM_001256317.3

p.A138G

c.413C>G

35 papers

NM_001256317.3

p.A138E

c.413C>A

NM_032404.3

p.A11E

c.32C>A

1 paper

NM_001256317.3

p.A138T

c.412G>A

2 papers

NM_001256317.3

p.Y137*

c.411C>G

2 papers

NM_001256317.3

p.Y137*

c.411C>A