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.V63A

c.188T>C

Surrounding Variants

1 paper

NM_000129.4

p.K62N

c.186G>T

1 paper

NM_000129.4

p.K62N

c.186G>C

1 paper

NM_000129.4

p.H65Y

c.193C>T

2 papers

NM_000129.4

p.N61K

c.183C>G

3 papers

NM_000129.4

p.N61K

c.183C>A

1 paper

NM_000129.4

p.D59_T60del2

c.175_179del6

2 papers

NM_000129.4

p.W58delFs

c.173delC

1 paper

NM_000129.4

p.S50_W58delFs

c.150_172del23

1 paper

NM_000129.4

p.K69N

c.207G>T

1 paper

NM_000129.4

p.K69N

c.207G>C

1 paper

NM_000129.4

p.Y70*

c.210T>G

2 papers

NM_000129.4

p.E71K

c.211G>A