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

2 papers

NM_000361.3

p.C267Y

c.800G>A

Surrounding Variants

2 papers

NM_000361.3

p.C267W

c.801C>G

3 papers

NM_000361.3

p.C265S

c.794G>C

1 paper

NM_000361.3

p.C265G

c.793T>G

2 papers

NM_000361.3

p.C265S

c.793T>A

4 papers

NM_000361.3

p.A269A

c.807C>T

2 papers

NM_000361.3

p.A271T

c.811G>A

1 paper

NM_000361.3

p.H254_A262del9

c.760_785del27

1 paper

NM_000361.3

p.G261E

c.782G>A

1 paper

NM_000361.3

p.P260A

c.778C>G

1 paper

NM_000361.3

p.A258T

c.772G>A

1 paper

NM_000361.3

p.G277E

c.830G>A

1 paper

NM_000361.3

p.R278S

c.832C>A