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

77 papers

NM_000361.3

p.A473V

c.1418C>T

Surrounding Variants

1 paper

NM_000361.3

p.A473D

c.1418C>A

1 paper

NM_000361.3

p.H475Y

c.1423C>T

1 paper

NM_000361.3

p.S470S

c.1410G>C

4 papers

NM_000361.3

p.T478I

c.1433C>T

1 paper

NM_000361.3

p.C480G

c.1438T>G

1 paper

NM_000361.3

p.D481H

c.1441G>C

1 paper

NM_000361.3

p.G483S

c.1447G>A

40 papers

NM_000361.3

p.D486Y

c.1456G>T

1 paper

NM_000361.3

p.D486N

c.1456G>A

1 paper

NM_000361.3

p.D489Y

c.1465G>T

1 paper

NM_000361.3

p.D489H

c.1465G>C

1 paper

NM_000361.3

p.S490S

c.1470C>T