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.Q50*

c.148C>T

Surrounding Variants

1 paper

NM_000361.3

p.S49R

c.147T>A

3 papers

NM_000361.3

p.D53G

c.158A>G

1 paper

NM_000361.3

p.D53D

c.159C>T

1 paper

NM_000361.3

p.G54R

c.160G>A

1 paper

NM_000361.3

p.L46F

c.136C>T

1 paper

NM_000361.3

p.L55M

c.163C>A

4 papers

NM_000361.3

p.T44I

c.131C>T

2 papers

NM_000361.3

p.A43A

c.129G>C

39 papers

NM_000361.3

p.A43T

c.127G>A

1 paper

NM_000361.3

p.P42R

c.125C>G

2 papers

NM_000361.3

p.H58Y

c.172C>T

1 paper

NM_000361.3

p.G41S

c.121G>A