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.P37S

c.109C>T

Surrounding Variants

1 paper

NM_000129.4

p.V36A

c.107T>C

1 paper

NM_000129.4

p.R38W

c.112C>T

2 papers

NM_000129.4

p.R38P

c.113G>C

3 papers

NM_000129.4

p.R38Q

c.113G>A

26 papers

NM_000129.4

p.V35L

c.103G>T

17 papers

NM_000129.4

p.V35L

c.103G>C

1 paper

NM_000129.4

p.V35M

c.103G>A

1 paper

NM_000129.4

p.G34C

c.100G>T

2 papers

NM_000129.4

p.V40I

c.118G>A

1 paper

NM_000129.4

p.V40G

c.119T>G

3 papers

NM_000129.4

p.Q43*

c.127C>T

1 paper

NM_000129.4

p.V30M

c.88G>A