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

28 papers

NM_000361.3

p.P501L

c.1502C>T

Surrounding Variants

8 papers

NM_000361.3

p.G502R

c.1504G>C

6 papers

NM_000361.3

p.T500M

c.1499C>T

2 papers

NM_000361.3

p.P499R

c.1496C>G

7 papers

NM_000361.3

p.P496delFs

c.1487delG

8 papers

NM_000361.3

p.P496fs

c.1486_1487fs

15 papers

NM_000361.3

p.P495S

c.1483C>T

3 papers

NM_000361.3

p.P508L

c.1523C>T

1 paper

NM_000361.3

p.V510E

c.1529T>A

1 paper

NM_000361.3

p.S490S

c.1470C>T

1 paper

NM_000361.3

p.L512H

c.1535T>A

1 paper

NM_000361.3

p.D489Y

c.1465G>T

1 paper

NM_000361.3

p.D489H

c.1465G>C