Varaico: Literature-Extracted Genetic Variants

COL8A1

103 papers

RefSeq Summary

This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII...

Pfam Domains

Collagenaa 157–214UCSCCollagen triple helix repeat (20 copies)

Collagenaa 470–532UCSCCollagen triple helix repeat (20 copies)

C1qaa 617–741UCSCC1q domain

Gene Aliases

HGNC Name

collagen type VIII alpha 1 chain

HGNC Alias Symbol

MGC9568

Papers

RefSeq ID

Protein change

DNA change

1–12 of 112 variants

3 papers

NM_020351.4

p.N682D

c.2044A>G

2 papers

NM_020351.4

p.V58A

c.173T>C

2 papers

NM_020351.4

p.P195L

c.584C>T

2 papers

NM_020351.4

p.R362Q

c.1085G>A

2 papers

NM_020351.4

p.G438E

c.1313G>A

2 papers

NM_020351.4

p.G486E

c.1457G>A

2 papers

NM_020351.4

p.E520K

c.1558G>A

2 papers

NM_020351.4

p.P628S

c.1882C>T

2 papers

NM_020351.4

p.E683K

c.2047G>A

2 papers

NM_020351.4

p.G695D

c.2084G>A

1 paper

NM_020351.4

p.L10L

c.30G>A

1 paper

NM_020351.4

p.V13_L14ins0

c.38_40dupTGC