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.C167W

c.501C>G

Surrounding Variants

1 paper

NM_000361.3

p.C167G

c.499T>G

1 paper

NM_000361.3

p.H170delFs

c.509delT

1 paper

NM_000361.3

p.G164V

c.491G>T

1 paper

NM_000361.3

p.D163N

c.487G>A

1 paper

NM_000361.3

p.C175S

c.523T>A

1 paper

NM_000361.3

p.C175S

c.524G>C

1 paper

NM_000361.3

p.C158G

c.472T>G

3 papers

NM_000361.3

p.P177L

c.530C>T

1 paper

NM_000361.3

p.Q156K

c.466C>A

1 paper

NM_000361.3

p.E154_E155del1

c.461_463delCCT

4 papers

NM_000361.3

p.E181E

c.543G>A

6 papers

NM_000361.3

p.W153G

c.457T>G