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.V6V

c.18C>A

Surrounding Variants

1 paper

NM_000361.3

p.V6D

c.17T>A

1 paper

NM_000361.3

p.A9P

c.25G>C

2 papers

NM_000361.3

p.A9V

c.26C>T

1 paper

NM_000361.3

p.L10L

c.28C>T

1 paper

NM_000361.3

p.L10P

c.29T>C

1 paper

NM_000361.3

p.L10Q

c.29T>A

1 paper

NM_000361.3

p.G3W

c.7G>T

2 papers

NM_000361.3

p.L2P

c.5T>C

1 paper

NM_000361.3

p.A11T

c.31G>A

1 paper

NM_000361.3

p.L2F

c.4C>T

1 paper

NM_000361.3

p.M1I

c.3G>A

1 paper

NM_000361.3

p.M1Fs

c.2delinsGTFs