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.Q727*

c.2179C>T

Surrounding Variants

1 paper

NM_000129.4

p.R729*

c.2185C>T

1 paper

NM_000129.4

p.R729Q

c.2186G>A

2 papers

NM_000129.4

p.D723D

c.2169C>T

1 paper

NM_000129.4

p.M732delFs

c.2194delT

1 paper

NM_000129.4

p.H717R

c.2150A>G

1 paper

NM_000129.4

p.R716S

c.2148A>T

5 papers

NM_000129.4

p.R716G

c.2146A>G

2 papers

NM_000129.4

p.S712R

c.2136T>G

2 papers

NM_000129.4

p.S712R

c.2136T>A

2 papers

NM_000129.4

p.S712R

c.2134A>C

1 paper

NM_000129.4

p.M710I

c.2130G>T

1 paper

NM_000129.4

p.M710I

c.2130G>C