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

6 papers

NM_000129.4

p.T577M

c.1730C>T

Surrounding Variants

1 paper

NM_000129.4

p.V576M

c.1726G>A

1 paper

NM_000129.4

p.D575N

c.1723G>A

1 paper

NM_000129.4

p.P580S

c.1738C>T

2 papers

NM_000129.4

p.T573M

c.1718C>T

1 paper

NM_000129.4

p.E572G

c.1715A>G

1 paper

NM_000129.4

p.K571del1

c.1711_1712delCTT

1 paper

NM_000129.4

p.F583Splc

c.1747+1G>C

1 paper

NM_000129.4

p.F583Splc

c.1747+1G>A

1 paper

NM_000129.4

p.F583Splc

c.1747+2T>A

1 paper

NM_000129.4

p.E568E

c.1704A>G

16 papers

NM_000129.4

p.P565L

c.1694C>T

3 papers

NM_000129.4

p.G563R

c.1687G>C