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.A199D

c.596C>A

Surrounding Variants

1 paper

NM_000361.3

p.T195I

c.584C>T

1 paper

NM_000361.3

p.F204I

c.610T>A

1 paper

NM_000361.3

p.A206E

c.617C>A

2 papers

NM_000361.3

p.S190W

c.569C>G

2 papers

NM_000361.3

p.S190A

c.568T>G

1 paper

NM_000361.3

p.V189I

c.565G>A

1 paper

NM_000361.3

p.A188A

c.564C>T

1 paper

NM_000361.3

p.S211N

c.632G>A

1 paper

NM_000361.3

p.S212S

c.636C>A

1 paper

NM_000361.3

p.A214A

c.642G>T

1 paper

NM_000361.3

p.G183D

c.548G>A

1 paper

NM_000361.3

p.P177_P182del0

c.529_546del18