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.C252G

c.754T>G

Surrounding Variants

1 paper

NM_000361.3

p.G251D

c.752G>A

1 paper

NM_000361.3

p.G250D

c.749G>A

1 paper

NM_000361.3

p.G250R

c.748G>C

2 papers

NM_000361.3

p.C256S

c.766T>A

2 papers

NM_000361.3

p.C256S

c.767G>C

1 paper

NM_000361.3

p.A258T

c.772G>A

1 paper

NM_000361.3

p.W243_D244delFs

c.728_731del4

1 paper

NM_000361.3

p.D244Y

c.730G>T

1 paper

NM_000361.3

p.P260A

c.778C>G

1 paper

NM_000361.3

p.G261E

c.782G>A

1 paper

NM_000361.3

p.G241D

c.722G>A

1 paper

NM_000361.3

p.H254_A262del9

c.760_785del27