Varaico: Literature-Extracted Genetic Variants

THBD

542 papers

RefSeq Summary

The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factor...

Pfam Domains

Lectin_Caa 41–169UCSCLectin C-type domain

THBDaa 176–240UCSCThrombomodulin-like domain

FXa_inhibitionaa 245–280UCSCCoagulation Factor Xa inhibitory site

cEGFaa 305–328UCSCComplement Clr-like EGF-like

cEGFaa 423–444UCSCComplement Clr-like EGF-like

Gene Aliases

HGNC Name

thrombomodulin

HGNC Alias Symbols

CD141; THRM; BDCA-3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_000361.3

p.T312A

c.934A>G

Surrounding Variants

1 paper

NM_000361.3

p.T312I

c.935C>T

1 paper

NM_000361.3

p.E311*

c.931G>T

1 paper

NM_000361.3

p.G313R

c.937G>C

1 paper

NM_000361.3

p.C310W

c.930C>G

1 paper

NM_000361.3

p.R315L

c.944G>T

1 paper

NM_000361.3

p.R315Q

c.944G>A

1 paper

NM_000361.3

p.S305C

c.914C>G

1 paper

NM_000361.3

p.C323_E324ins10

c.967_971ins30

1 paper

NM_000361.3

p.V326L

c.976G>T

1 paper

NM_000361.3

p.V326L

c.976G>C

1 paper

NM_000361.3

p.C296Y

c.887G>A

1 paper

NM_000361.3

p.C296R

c.886T>C