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

2 papers

NM_001256317.3

p.K99delFs

c.297delT

Surrounding Variants

1 paper

NM_001256317.3

p.D100N

c.298G>A

2 papers

NM_001256317.3

p.D100V

c.299A>T

1 paper

NM_001256317.3

p.D100delFs

c.299_300delGT

1 paper

NM_001256317.3

p.K99_D100insT

c.295_299ins3

2 papers

NM_001256317.3

p.D103N

c.307G>A

16 papers

NM_001256317.3

p.D103G

c.308A>G

7 papers

NM_001256317.3

p.E104*

c.310G>T

6 papers

NM_001256317.3

p.E104K

c.310G>A

1 paper

NM_001256317.3

p.Y105H

c.313T>C

1 paper

NM_001256317.3

p.G94E

c.281G>A

1 paper

NM_001256317.3

p.G94*

c.280G>T

7 papers

NM_001256317.3

p.G94R

c.280G>C