Varaico: Literature-Extracted Genetic Variants

F13B

144 papers

RefSeq Summary

This gene encodes coagulation factor XIII B subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed o...

Pfam Domains

Sushiaa 25–87UCSCSushi repeat (SCR repeat)

Sushiaa 91–146UCSCSushi repeat (SCR repeat)

Sushiaa 153–208UCSCSushi repeat (SCR repeat)

Sushiaa 213–267UCSCSushi repeat (SCR repeat)

Sushiaa 274–327UCSCSushi repeat (SCR repeat)

Sushiaa 336–389UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

coagulation factor XIII B chain

HGNC Alias Symbol

FXIIIB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

9 papers

NM_001994.3

p.I342T

c.1025T>C

Surrounding Variants

1 paper

NM_001994.3

p.F341L

c.1023C>G

1 paper

NM_001994.3

p.F341L

c.1023C>A

1 paper

NM_001994.3

p.F341L

c.1021T>C

1 paper

NM_001994.3

p.G345C

c.1033G>T

1 paper

NM_001994.3

p.A347E

c.1040C>A

5 papers

NM_001994.3

p.C336F

c.1007G>T

2 papers

NM_001994.3

p.H350R

c.1049A>G

1 paper

NM_001994.3

p.V334L

c.1000G>T

1 paper

NM_001994.3

p.V334L

c.1000G>C

1 paper

NM_001994.3

p.Q331R

c.992A>G

1 paper

NM_001994.3

p.Y354H

c.1060T>C

1 paper

NM_001994.3

p.G357G

c.1071G>C