Varaico: Literature-Extracted Genetic Variants

COL18A1

436 papers

RefSeq Summary

This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) inter...

Pfam Domains

DUF959aa 13–194UCSCDomain of Unknown Function (DUF959)

Collagenaa 563–622UCSCCollagen triple helix repeat (20 copies)

Collagenaa 692–755UCSCCollagen triple helix repeat (20 copies)

Collagenaa 803–861UCSCCollagen triple helix repeat (20 copies)

Collagenaa 835–893UCSCCollagen triple helix repeat (20 copies)

Collagenaa 951–1011UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type XVIII alpha 1 chain

HGNC Previous Symbol

KNO

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_030582.4

p.G884insFs

c.2651_2652insC

NM_001379500.1

p.P886insFs

c.2658dupC

NM_130444.3

p.P706insFs

c.2118dupC

Surrounding Variants

1 paper

NM_001379500.1

p.G704delFs

c.2112delC

1 paper

NM_001379500.1

p.G704fs

c.2110_2111fs

1 paper

NM_001379500.1

p.P703L

c.2108C>T

1 paper

NM_001379500.1

p.P705P

c.2115C>A

1 paper

NM_001379500.1

p.P706fs

c.2116_2117fs

1 paper

NM_030582.4

p.P886R

c.2657C>G

1 paper

NM_001379500.1

p.L702P

c.2105T>C

1 paper

NM_130444.3

p.P1123_P1126del0

c.3369_3377del9

4 papers

NM_001379500.1

p.L702delFs

c.2105delT

NM_030582.4

p.L882delFs

c.2645delT

3 papers

NM_030582.4

p.L882fs

c.2644_2645fs

NM_130444.3

p.L1117fs

c.3349_3350fs

NM_001379500.1

p.L702fs

c.2104_2105fs

1 paper

NM_001379500.1

p.G707R

c.2119G>A

1 paper

NM_001379500.1

p.G707R

c.2119G>C