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.R106H

c.317G>A

Surrounding Variants

1 paper

NM_000361.3

p.R106C

c.316C>T

1 paper

NM_000361.3

p.G107V

c.320G>T

1 paper

NM_000361.3

p.F108I

c.322T>A

1 paper

NM_000361.3

p.F108insFs

c.323_324ins10

3 papers

NM_000361.3

p.G103E

c.308G>A

1 paper

NM_000361.3

p.L102V

c.304C>G

3 papers

NM_000361.3

p.R101L

c.302G>T

1 paper

NM_000361.3

p.K100*

c.298A>T

1 paper

NM_000361.3

p.D114N

c.340G>A

1 paper

NM_000361.3

p.S120R

c.360C>A

1 paper

NM_000361.3

p.R85_I88del0

c.254_262del9

1 paper

NM_000361.3

p.I88F

c.262A>T