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.R79*

c.235A>T

Surrounding Variants

1 paper

NM_000129.4

p.R78L

c.233G>T

8 papers

NM_000129.4

p.R78H

c.233G>A

1 paper

NM_000129.4

p.G80W

c.238G>T

1 paper

NM_000129.4

p.G80R

c.238G>A

7 papers

NM_000129.4

p.R78C

c.232C>T

1 paper

NM_000129.4

p.L75_I76del2

c.223_227del6

1 paper

NM_000129.4

p.I76T

c.227T>C

1 paper

NM_000129.4

p.Q81H

c.243G>T

1 paper

NM_000129.4

p.Q81H

c.243G>C

1 paper

NM_000129.4

p.F83S

c.248T>C

1 paper

NM_000129.4

p.N73T

c.218A>C

2 papers

NM_000129.4

p.E71delFs

c.212delT