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.L528Q

c.1583T>A

Surrounding Variants

1 paper

NM_000361.3

p.V529G

c.1586T>G

1 paper

NM_000361.3

p.A534V

c.1601C>T

24 papers

NM_000361.3

p.C537*

c.1611C>A

1 paper

NM_000361.3

p.L517*

c.1550T>A

1 paper

NM_000361.3

p.L517M

c.1549T>A

1 paper

NM_000361.3

p.R540H

c.1619G>A

1 paper

NM_000361.3

p.G516D

c.1547G>A

1 paper

NM_000361.3

p.G516R

c.1546G>C

1 paper

NM_000361.3

p.R540R

c.1620C>T

1 paper

NM_000361.3

p.L512H

c.1535T>A

1 paper

NM_000361.3

p.A545T

c.1633G>A

1 paper

NM_000361.3

p.A546T

c.1636G>A