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.C224G

c.670T>G

Surrounding Variants

1 paper

NM_000361.3

p.T225_A226Fs

c.675_676delinsGFs

1 paper

NM_000361.3

p.Q221Q

c.663G>A

10 papers

NM_000361.3

p.A226V

c.677C>T

2 papers

NM_000361.3

p.L220*

c.659T>G

2 papers

NM_000361.3

p.L220*

c.659T>A

2 papers

NM_000361.3

p.P228L

c.683C>T

2 papers

NM_000361.3

p.V231I

c.691G>A

1 paper

NM_000361.3

p.Q232H

c.696G>T

1 paper

NM_000361.3

p.Q232H

c.696G>C

1 paper

NM_000361.3

p.A214A

c.642G>T

1 paper

NM_000361.3

p.S212S

c.636C>A

3 papers

NM_000361.3

p.A236G

c.707C>G