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.G219_G220del0

c.655_660del6

Surrounding Variants

1 paper

NM_001256317.3

p.V218_N221del0

c.652_663del12

1 paper

NM_001256317.3

p.L225_S226insCAG

c.673_677ins9

16 papers

NM_001256317.3

p.R216L

c.647G>T

6 papers

NM_001256317.3

p.R216H

c.647G>A

NM_032404.3

p.R89H

c.266G>A

20 papers

NM_001256317.3

p.R216C

c.646C>T

1 paper

NM_001256317.3

p.S226L

c.677C>T

1 paper

NM_032404.3

p.S99*

c.296C>A

1 paper

NM_001256317.3

p.S215A

c.643T>G

1 paper

NM_032404.3

p.Q100L

c.299A>T

1 paper

NM_001256317.3

p.Q227R

c.680A>G

2 papers

NM_001256317.3

p.Q227Q

c.681G>A

1 paper

NM_001256317.3

p.S214N

c.641G>A