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.L59R

c.176T>G

Surrounding Variants

2 papers

NM_000361.3

p.M60I

c.180G>T

2 papers

NM_000361.3

p.M60I

c.180G>C

2 papers

NM_000361.3

p.M60I

c.180G>A

2 papers

NM_000361.3

p.H58Y

c.172C>T

1 paper

NM_000361.3

p.T61T

c.183A>T

2 papers

NM_000361.3

p.V62M

c.184G>A

1 paper

NM_000361.3

p.L55M

c.163C>A

1 paper

NM_000361.3

p.G54R

c.160G>A

1 paper

NM_000361.3

p.D53D

c.159C>T

3 papers

NM_000361.3

p.D53G

c.158A>G

2 papers

NM_000361.3

p.A68T

c.202G>A

1 paper

NM_000361.3

p.Q50*

c.148C>T