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

1 paper

NM_000361.3

p.G82fs

c.244_245fs

Surrounding Variants

1 paper

NM_000361.3

p.G82delFs

c.245delC

1 paper

NM_000361.3

p.V81L

c.241G>C

5 papers

NM_000361.3

p.V81I

c.241G>A

1 paper

NM_000361.3

p.R83G

c.247C>G

1 paper

NM_000361.3

p.R83insFs

c.248_249insCT

1 paper

NM_000361.3

p.G80S

c.238G>A

6 papers

NM_000361.3

p.G79A

c.236G>C

2 papers

NM_000361.3

p.R85H

c.254G>A

1 paper

NM_000361.3

p.D78A

c.233A>C

1 paper

NM_000361.3

p.L86I

c.256C>A

1 paper

NM_000361.3

p.W87*

c.260G>A

1 paper

NM_000361.3

p.W87*

c.261G>A