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.S20delFs

c.59_60delAG

Surrounding Variants

3 papers

NM_000129.4

p.S20P

c.58T>C

1 paper

NM_000129.4

p.N19T

c.56A>C

1 paper

NM_000129.4

p.A23V

c.68C>T

1 paper

NM_000129.4

p.P17L

c.50C>T

1 paper

NM_000129.4

p.P16L

c.47C>T

3 papers

NM_000129.4

p.P16S

c.46C>T

1 paper

NM_000129.4

p.D25_D26delFs

c.75_76delCA

1 paper

NM_000129.4

p.T29K

c.86C>A

1 paper

NM_000129.4

p.R12K

c.35G>A

1 paper

NM_000129.4

p.V30M

c.88G>A

3 papers

NM_000129.4

p.R12G

c.34A>G

3 papers

NM_000129.4

p.F9delFs

c.27delA