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.D140H

c.418G>C

Surrounding Variants

1 paper

NM_000129.4

p.D140Y

c.418G>T

1 paper

NM_000129.4

p.D140E

c.420C>G

1 paper

NM_000129.4

p.R138*

c.412A>T

1 paper

NM_000129.4

p.M137I

c.411G>C

1 paper

NM_000129.4

p.V143M

c.427G>A

1 paper

NM_000129.4

p.V136F

c.406G>T

1 paper

NM_000129.4

p.R144Q

c.431G>A

1 paper

NM_000129.4

p.K134K

c.402G>A

4 papers

NM_000129.4

p.W131*

c.392G>A

2 papers

NM_000129.4

p.K130insFs

c.389_390insG

1 paper

NM_000129.4

p.G129*

c.385G>T

1 paper

NM_000129.4

p.P151T

c.451C>A