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.Y552*

c.1656C>A

Surrounding Variants

1 paper

NM_000361.3

p.Y552*

c.1656C>G

1 paper

NM_000361.3

p.C554C

c.1662C>T

1 paper

NM_000361.3

p.M550V

c.1648A>G

1 paper

NM_000361.3

p.K549delFs

c.1646delT

1 paper

NM_000361.3

p.A548P

c.1642G>C

1 paper

NM_000361.3

p.A546V

c.1637C>T

1 paper

NM_000361.3

p.A546T

c.1636G>A

3 papers

NM_000361.3

p.E560Q

c.1678G>C

1 paper

NM_000361.3

p.A545T

c.1633G>A

1 paper

NM_000361.3

p.V562V

c.1686G>C

2 papers

NM_000361.3

p.L563Q

c.1688T>A

1 paper

NM_000361.3

p.L563_Q564insFs

c.1689_1690insT