Varaico: Literature-Extracted Genetic Variants

F13A1

254 papers

RefSeq Summary

This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer compos...

Pfam Domains

Transglut_Naa 49–165UCSCTransglutaminase family

Transglut_coreaa 285–398UCSCTransglutaminase-like superfamily

Transglut_Caa 519–623UCSCTransglutaminase family, C-terminal ig like domain

Transglut_Caa 631–728UCSCTransglutaminase family, C-terminal ig like domain

Gene Aliases

HGNC Name

coagulation factor XIII A chain

HGNC Previous Name

coagulation factor XIII, A1 polypeptide

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000129.4

p.S555L

c.1664C>T

Surrounding Variants

1 paper

NM_000129.4

p.L554F

c.1660C>T

1 paper

NM_000129.4

p.Y553H

c.1657T>C

3 papers

NM_000129.4

p.T551delFs

c.1652delG

1 paper

NM_000129.4

p.T551I

c.1652C>T

1 paper

NM_000129.4

p.T549A

c.1645A>G

1 paper

NM_000129.4

p.Y548insFs

c.1643_1644insA

3 papers

NM_000129.4

p.G563R

c.1687G>C

6 papers

NM_000129.4

p.G563R

c.1687G>A

16 papers

NM_000129.4

p.P565L

c.1694C>T

1 paper

NM_000129.4

p.N543S

c.1628A>G

1 paper

NM_000129.4

p.N542K

c.1626C>G

1 paper

NM_000129.4

p.E568E

c.1704A>G