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

2 papers

NM_000129.4

p.R697Q

c.2090G>A

Surrounding Variants

1 paper

NM_000129.4

p.R697R

c.2091G>A

1 paper

NM_000129.4

p.R697W

c.2089C>T

2 papers

NM_000129.4

p.W699*

c.2096G>A

1 paper

NM_000129.4

p.W692L

c.2075G>T

1 paper

NM_000129.4

p.W692*

c.2075G>A

3 papers

NM_000129.4

p.R704W

c.2110C>T

7 papers

NM_000129.4

p.R704Q

c.2111G>A

1 paper

NM_000129.4

p.T689delFs

c.2066delG

1 paper

NM_000129.4

p.L706insFs

c.2116_2117ins4

1 paper

NM_000129.4

p.S688C

c.2063C>G

2 papers

NM_000129.4

p.S709N

c.2126G>A

1 paper

NM_000129.4

p.M710I

c.2130G>T