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.E361K

c.1081G>A

Surrounding Variants

1 paper

NM_000361.3

p.E361G

c.1082A>G

1 paper

NM_000361.3

p.D359Y

c.1075G>T

3 papers

NM_000361.3

p.D359N

c.1075G>A

1 paper

NM_000361.3

p.D356_L357delFs

c.1068_1071del4

1 paper

NM_000361.3

p.N354K

c.1062C>G

1 paper

NM_000361.3

p.P368S

c.1102C>T

2 papers

NM_000361.3

p.P368L

c.1103C>T

2 papers

NM_000361.3

p.P353T

c.1057C>A

1 paper

NM_000361.3

p.C351C

c.1053C>T

1 paper

NM_000361.3

p.C378G

c.1132T>G

1 paper

NM_000361.3

p.C378S

c.1132T>A

1 paper

NM_000361.3

p.N342I

c.1025A>T