Varaico: Literature-Extracted Genetic Variants

F2

3,621 papers

RefSeq Summary

This gene encodes the prothrombin protein (also known as coagulation factor II). This protein is proteolytically cleaved in multiple steps to form the activated serine protease thrombin. The activated...

Pfam Domains

Glaaa 48–88UCSCVitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

Kringleaa 108–186UCSCKringle domain

Kringleaa 213–291UCSCKringle domain

Thrombin_lightaa 316–363UCSCThrombin light chain

Trypsinaa 364–613UCSCTrypsin

Gene Aliases

HGNC Name

coagulation factor II, thrombin

HGNC Previous Name

coagulation factor II (thrombin)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000506.5

p.T229T

c.687A>T

Surrounding Variants

1 paper

NM_000506.5

p.H230Y

c.688C>T

2 papers

NM_000506.5

p.H230R

c.689A>G

1 paper

NM_000506.5

p.T228I

c.683C>T

2 papers

NM_000506.5

p.G231R

c.691G>A

1 paper

NM_000506.5

p.V227A

c.680T>C

1 paper

NM_000506.5

p.L232P

c.695T>C

1 paper

NM_000506.5

p.L232L

c.696C>A

1 paper

NM_000506.5

p.A226G

c.677C>G

192 papers

NM_000506.5

p.A226V

c.677C>T

1 paper

NM_000506.5

p.A226T

c.676G>A

1 paper

NM_000506.5

p.L225_A226Fs

c.675_676delinsGFs

1 paper

NM_000506.5

p.R224R

c.672C>A