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

1–12 of 274 variants

77 papers

NM_000361.3

p.A473V

c.1418C>T

40 papers

NM_000361.3

p.D486Y

c.1456G>T

39 papers

NM_000361.3

p.A43T

c.127G>A

28 papers

NM_000361.3

p.P501L

c.1502C>T

24 papers

NM_000361.3

p.C537*

c.1611C>A

15 papers

NM_000361.3

p.P495S

c.1483C>T

11 papers

NM_000361.3

p.R403K

c.1208G>A

10 papers

NM_000361.3

p.A226V

c.677C>T

8 papers

NM_000361.3

p.P496fs

c.1486_1487fs

8 papers

NM_000361.3

p.G502R

c.1504G>C

7 papers

NM_000361.3

p.P496delFs

c.1487delG

6 papers

NM_000361.3

p.G79A

c.236G>C