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

20 papers

NM_001256317.3

p.R216C

c.646C>T

Surrounding Variants

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

1 paper

NM_001256317.3

p.S215A

c.643T>G

1 paper

NM_001256317.3

p.S214N

c.641G>A

1 paper

NM_001256317.3

p.G212G

c.636C>T

1 paper

NM_001256317.3

p.G219_G220del0

c.655_660del6

1 paper

NM_001256317.3

p.V218_N221del0

c.652_663del12

3 papers

NM_001256317.3

p.C207C

c.621T>C

1 paper

NM_001256317.3

p.L225_S226insCAG

c.673_677ins9

1 paper

NM_001256317.3

p.A206fs

c.616_617fs

4 papers

NM_001256317.3

p.A206S

c.616G>T

1 paper

NM_001256317.3

p.S226L

c.677C>T