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

11 papers

NM_000361.3

p.R403K

c.1208G>A

Surrounding Variants

3 papers

NM_000361.3

p.R403S

c.1209G>T

2 papers

NM_000361.3

p.R403S

c.1209G>C

1 paper

NM_000361.3

p.H402Y

c.1204C>T

2 papers

NM_000361.3

p.P401L

c.1202C>T

1 paper

NM_000361.3

p.Q405_M406del1

c.1214_1216delTCT

1 paper

NM_000361.3

p.M406I

c.1218G>T

1 paper

NM_000361.3

p.M406I

c.1218G>C

1 paper

NM_000361.3

p.M406I

c.1218G>A

1 paper

NM_000361.3

p.Q405_M406del2

c.1213_1217del6

1 paper

NM_000361.3

p.H399H

c.1197C>T

2 papers

NM_000361.3

p.A412T

c.1234G>A

1 paper

NM_000361.3

p.A391V

c.1172C>T