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.C35*

c.105C>A

Surrounding Variants

1 paper

NM_000361.3

p.C35F

c.104G>T

2 papers

NM_000361.3

p.C35Y

c.104G>A

1 paper

NM_000361.3

p.D34E

c.102C>G

1 paper

NM_000361.3

p.D34E

c.102C>A

2 papers

NM_000361.3

p.Y39F

c.116A>T

1 paper

NM_000361.3

p.V31V

c.93C>T

1 paper

NM_000361.3

p.P40S

c.118C>T

1 paper

NM_000361.3

p.P40A

c.118C>G

1 paper

NM_000361.3

p.V31I

c.91G>A

2 papers

NM_000361.3

p.P40L

c.119C>T

1 paper

NM_000361.3

p.G41S

c.121G>A

1 paper

NM_000361.3

p.P42R

c.125C>G