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

1–12 of 432 variants

26 papers

NM_000129.4

p.V35L

c.103G>T

17 papers

NM_000129.4

p.V35L

c.103G>C

16 papers

NM_000129.4

p.P565L

c.1694C>T

10 papers

NM_000129.4

p.R682H

c.2045G>A

8 papers

NM_000129.4

p.R78H

c.233G>A

8 papers

NM_000129.4

p.R175*

c.523C>T

8 papers

NM_000129.4

p.Y205F

c.614A>T

8 papers

NM_000129.4

p.R662*

c.1984C>T

7 papers

NM_000129.4

p.R78C

c.232C>T

7 papers

NM_000129.4

p.R409Q

c.1226G>A

7 papers

NM_000129.4

p.S414L

c.1241C>T

7 papers

NM_000129.4

p.R704Q

c.2111G>A