Varaico: Literature-Extracted Genetic Variants

COL4A6

165 papers

RefSeq Summary

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized ...

Pfam Domains

Collagenaa 44–104UCSCCollagen triple helix repeat (20 copies)

Collagenaa 100–160UCSCCollagen triple helix repeat (20 copies)

Collagenaa 163–221UCSCCollagen triple helix repeat (20 copies)

Collagenaa 284–346UCSCCollagen triple helix repeat (20 copies)

Collagenaa 356–417UCSCCollagen triple helix repeat (20 copies)

Collagenaa 488–549UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type IV alpha 6 chain

HGNC Previous Name

collagen, type IV, alpha 6

Papers

RefSeq ID

Protein change

DNA change

1–12 of 188 variants

8 papers

NM_033641.4

p.D591N

c.1771G>A

4 papers

NM_033641.4

p.E44K

c.130G>A

4 papers

NM_033641.4

p.A937A

c.2811T>C

3 papers

NM_033641.4

p.E44Q

c.130G>C

3 papers

NM_033641.4

p.G406V

c.1217G>T

3 papers

NM_033641.4

p.G486S

c.1456G>A

2 papers

NM_033641.4

p.G476V

c.1427G>T

2 papers

NM_033641.4

p.G545A

c.1634G>C

2 papers

NM_033641.4

p.I657_I658ins1

c.1971_1972insAAG

2 papers

NM_033641.4

p.Y662D

c.1984T>G

2 papers

NM_033641.4

p.G791S

c.2371G>A

2 papers

NM_033641.4

p.G1081G

c.3243A>G