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.F120del1

c.358_360delGAA

Surrounding Variants

1 paper

NM_001256317.3

p.A123D

c.368C>A

1 paper

NM_001256317.3

p.Q118*

c.352C>T

3 papers

NM_001256317.3

p.S124L

c.371C>T

1 paper

NM_001256317.3

p.W125_K126ins4

c.373_377ins12

13 papers

NM_001256317.3

p.V116M

c.346G>A

1 paper

NM_001256317.3

p.K126K

c.378G>A

1 paper

NM_001256317.3

p.M128T

c.383T>C

1 paper

NM_001256317.3

p.Q113Q

c.339G>A

1 paper

NM_001256317.3

p.Q113delFs

c.337delG

1 paper

NM_001256317.3

p.C129Y

c.386G>A

1 paper

NM_001256317.3

p.G112V

c.335G>T

2 papers

NM_032404.3

p.S3insFs

c.8_9insT