Varaico: Literature-Extracted Genetic Variants

F12

1,010 papers

RefSeq Summary

This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a lig...

Pfam Domains

fn2aa 47–88UCSCFibronectin type II domain

EGFaa 98–129UCSCEGF-like domain

fn1aa 135–170UCSCFibronectin type I domain

EGFaa 178–208UCSCEGF-like domain

Kringleaa 217–295UCSCKringle domain

Trypsinaa 373–609UCSCTrypsin

Gene Aliases

HGNC Name

coagulation factor XII

HGNC Previous Name

coagulation factor XII (Hageman factor)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000505.4

p.A25delFs

c.74delG

Surrounding Variants

7 papers

NM_000505.4

p.K27M

c.80A>T

1 paper

NM_000505.4

p.K27insFs

c.79dupA

1 paper

NM_000505.4

p.A25D

c.74C>A

2 papers

NM_000505.4

p.A25T

c.73G>A

1 paper

NM_000505.4

p.E28_H29insFs

c.84_85insG

1 paper

NM_000505.4

p.P22R

c.65C>G

1 paper

NM_000505.4

p.P22S

c.64C>T

2 papers

NM_000505.4

p.P21L

c.62C>T

1 paper

NM_000505.4

p.A33T

c.97G>A

1 paper

NM_000505.4

p.P21T

c.61C>A

2 papers

NM_000505.4

p.I20I

c.60T>A

1 paper

NM_000505.4

p.E34Q

c.100G>C