Varaico: Literature-Extracted Genetic Variants

COL8A2

201 papers

RefSeq Summary

This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) ty...

Pfam Domains

Collagenaa 55–107UCSCCollagen triple helix repeat (20 copies)

Collagenaa 368–430UCSCCollagen triple helix repeat (20 copies)

Collagenaa 494–554UCSCCollagen triple helix repeat (20 copies)

C1qaa 511–635UCSCC1q domain

Gene Aliases

HGNC Name

collagen type VIII alpha 2 chain

HGNC Previous Symbol

FECD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

59 papers

NM_005202.4

p.Q455K

c.1363C>A

Surrounding Variants

1 paper

NM_005202.4

p.G454G

c.1362G>C

2 papers

NM_005202.4

p.Q455delins

c.1363_1364delinsGT

1 paper

NM_005202.4

p.L458ins3

c.1373_1374ins9

62 papers

NM_005202.4

p.L450W

c.1349T>G

1 paper

NM_005202.4

p.R459R

c.1377G>A

1 paper

NM_005202.4

p.G460D

c.1379G>A

1 paper

NM_005202.4

p.S462*

c.1385C>A

1 paper

NM_005202.4

p.L444M

c.1330C>A

1 paper

NM_005202.4

p.A441delFs

c.1321delC

1 paper

NM_005202.4

p.G439insFs

c.1316_1317insG

1 paper

NM_005202.4

p.P435L

c.1304C>T

1 paper

NM_005202.4

p.G475R

c.1423G>C