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

8 papers

NM_000129.4

p.Y205F

c.614A>T

Surrounding Variants

1 paper

NM_000129.4

p.Y205C

c.614A>G

1 paper

NM_000129.4

p.V206A

c.617T>C

3 papers

NM_000129.4

p.E204K

c.610G>A

1 paper

NM_000129.4

p.E203fs

c.607_608fs

1 paper

NM_000129.4

p.L207P

c.620T>C

3 papers

NM_000129.4

p.E203delFs

c.607delC

1 paper

NM_000129.4

p.E203K

c.607G>A

1 paper

NM_000129.4

p.E201_R202delFs

c.602_605del4

2 papers

NM_000129.4

p.R202delFs

c.604delT

4 papers

NM_000129.4

p.G211R

c.631G>C

6 papers

NM_000129.4

p.G211R

c.631G>A

1 paper

NM_000129.4

p.E199*

c.595G>T