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.S141P

c.421T>C

Surrounding Variants

1 paper

NM_000361.3

p.V140A

c.419T>C

1 paper

NM_000361.3

p.A143P

c.427G>C

1 paper

NM_000361.3

p.V138D

c.413T>A

1 paper

NM_000361.3

p.E144V

c.431A>T

1 paper

NM_000361.3

p.A145T

c.433G>A

2 papers

NM_000361.3

p.L136W

c.407T>G

1 paper

NM_000361.3

p.L136S

c.407T>C

1 paper

NM_000361.3

p.P135_L136delFs

c.405_406delAC

1 paper

NM_000361.3

p.P135S

c.403C>T

2 papers

NM_000361.3

p.G134V

c.401G>T

1 paper

NM_000361.3

p.C133C

c.399C>T

1 paper

NM_000361.3

p.P148P

c.444C>A