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

4 papers

NM_000129.4

p.G502R

c.1504G>A

Surrounding Variants

3 papers

NM_000129.4

p.G502R

c.1504G>C

1 paper

NM_000129.4

p.L499P

c.1496T>C

1 paper

NM_000129.4

p.N508K

c.1524C>G

1 paper

NM_000129.4

p.N508K

c.1524C>A

1 paper

NM_000129.4

p.T509I

c.1526C>T

1 paper

NM_000129.4

p.L493W

c.1478T>G

1 paper

NM_000129.4

p.R492delFs

c.1475_1476delTC

1 paper

NM_000129.4

p.G511S

c.1531G>A

1 paper

NM_000129.4

p.R492fs

c.1474_1475fs

2 papers

NM_000129.4

p.M513K

c.1538T>A

1 paper

NM_000129.4

p.M513I

c.1539G>T

1 paper

NM_000129.4

p.M513I

c.1539G>C