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.L661P

c.1982T>C

Surrounding Variants

1 paper

NM_000129.4

p.L661delFs

c.1981delG

8 papers

NM_000129.4

p.R662*

c.1984C>T

3 papers

NM_000129.4

p.R662Q

c.1985G>A

2 papers

NM_000129.4

p.W665*

c.1994G>A

1 paper

NM_000129.4

p.W665*

c.1995G>A

1 paper

NM_000129.4

p.V666A

c.1997T>C

1 paper

NM_000129.4

p.H667L

c.2000A>T

1 paper

NM_000129.4

p.L668P

c.2003T>C

1 paper

NM_000129.4

p.F653_T654insFs

c.1959_1960insT

3 papers

NM_000129.4

p.D669G

c.2006A>G

2 papers

NM_000129.4

p.G670S

c.2008G>A

6 papers

NM_000129.4

p.E652Q

c.1954G>C