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.E435_V436Splc

c.1305+1G>A

Surrounding Variants

1 paper

NM_000129.4

p.F433V

c.1297T>G

1 paper

NM_000129.4

p.A429V

c.1286C>T

1 paper

NM_000129.4

p.C424F

c.1271G>T

2 papers

NM_000129.4

p.V423I

c.1267G>A

1 paper

NM_000129.4

p.G421C

c.1261G>T

3 papers

NM_000129.4

p.G421S

c.1261G>A

5 papers

NM_000129.4

p.Q416R

c.1247A>G

3 papers

NM_000129.4

p.V415F

c.1243G>T

7 papers

NM_000129.4

p.S414L

c.1241C>T

2 papers

NM_000129.4

p.S414W

c.1241C>G

4 papers

NM_000129.4

p.G411C

c.1231G>T

3 papers

NM_000129.4

p.R409P

c.1226G>C