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.M1insFs

c.2_3insT

Surrounding Variants

1 paper

NM_000129.4

p.M1I

c.3G>T

2 papers

NM_000129.4

p.S2insFs

c.4_5insAT

1 paper

NM_000129.4

p.S2P

c.4T>C

1 paper

NM_000129.4

p.M1K

c.2T>A

1 paper

NM_000129.4

p.S2_E3insFs

c.6_7insT

1 paper

NM_000129.4

p.S2_E3insFs

c.6_7insTT

1 paper

NM_000129.4

p.E3insFs

c.7_8insTT

1 paper

NM_000129.4

p.S5F

c.14C>T

1 paper

NM_000129.4

p.F9fs

c.25_26fs

3 papers

NM_000129.4

p.F9delFs

c.27delA

3 papers

NM_000129.4

p.R12G

c.34A>G

1 paper

NM_000129.4

p.R12K

c.35G>A