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

6 papers

NM_000129.4

p.R172*

c.514C>T

Surrounding Variants

2 papers

NM_000129.4

p.R172P

c.515G>C

5 papers

NM_000129.4

p.R172Q

c.515G>A

4 papers

NM_000129.4

p.L171F

c.511C>T

1 paper

NM_000129.4

p.T173A

c.517A>G

2 papers

NM_000129.4

p.S174fs

c.520_521fs

2 papers

NM_000129.4

p.V170I

c.508G>A

5 papers

NM_000129.4

p.S174delFs

c.521delC

1 paper

NM_000129.4

p.G169S

c.505G>A

8 papers

NM_000129.4

p.R175*

c.523C>T

1 paper

NM_000129.4

p.Y168*

c.504T>G

1 paper

NM_000129.4

p.Y168*

c.504T>A

4 papers

NM_000129.4

p.Y168C

c.503A>G