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

5 papers

NM_001256317.3

p.I305F

c.913A>T

Surrounding Variants

45 papers

NM_001256317.3

p.A306T

c.916G>A

NM_032404.3

p.A179T

c.535G>A

1 paper

NM_001256317.3

p.D304N

c.910G>A

1 paper

NM_001256317.3

p.A306V

c.917C>T

2 papers

NM_001256317.3

p.A306A

c.918C>T

1 paper

NM_032404.3

p.L180F

c.538C>T

2 papers

NM_001256317.3

p.N303Y

c.907A>T

1 paper

NM_001256317.3

p.G302fs

c.904_905fs

1 paper

NM_001256317.3

p.L307L

c.921T>C

1 paper

NM_001256317.3

p.M308T

c.923T>C

2 papers

NM_001256317.3

p.L301P

c.902T>C

2 papers

NM_001256317.3

p.K299_R300del2

c.895_899del6

1 paper

NM_001256317.3

p.K299Q

c.895A>C