Varaico: Literature-Extracted Genetic Variants

F7

981 papers

RefSeq Summary

This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by ei...

Pfam Domains

EGFaa 26–56UCSCEGF-like domain

Glaaa 65–105UCSCVitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

FXa_inhibitionaa 67–103UCSCCoagulation Factor Xa inhibitory site

Trypsinaa 129–363UCSCTrypsin

Gene Aliases

HGNC Name

coagulation factor VII

HGNC Previous Name

coagulation factor VII (serum prothrombin conversion accelerator)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001267554.2

p.G73A

c.218G>C

Surrounding Variants

1 paper

NM_001267554.2

p.G73D

c.218G>A

2 papers

NM_000131.4

p.G157S

c.469G>A

NM_019616.4

p.G135S

c.403G>A

1 paper

NM_019616.4

p.G135R

c.403G>C

1 paper

NM_019616.4

p.C136R

c.406T>C

4 papers

NM_019616.4

p.C136Y

c.407G>A

2 papers

NM_019616.4

p.G134D

c.401G>A

NM_000131.4

p.G156D

c.467G>A

53 papers

NM_019616.4

p.G134V

c.401G>T

1 paper

NM_000131.4

p.C158F

c.473G>T

5 papers

NM_000131.4

p.G156S

c.466G>A

NM_019616.4

p.G134S

c.400G>A

3 papers

NM_019616.4

p.G134R

c.400G>C

3 papers

NM_000131.4

p.G156C

c.466G>T

1 paper

NM_000131.4

p.E159K

c.475G>A