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

14 papers

NM_001379500.1

p.L1175fs

c.3523_3524fs

NM_030582.4

p.L1352fs

c.4054_4055fs

NM_130444.3

p.L1587fs

c.4759_4760fs

Surrounding Variants

4 papers

NM_130444.3

p.L1587fs

c.4759_4760fs

NM_030582.4

p.L1352fs

c.4054_4055fs

NM_001379500.1

p.L1175fs

c.3523_3524fs

1 paper

NM_001379500.1

p.L1175V

c.3523C>G

20 papers

NM_001379500.1

p.L1175delFs

c.3523_3524delCT

NM_130444.3

p.L1587delFs

c.4759_4760delCT

NM_030582.4

p.L1352delFs

c.4054_4055delCT

1 paper

NM_001379500.1

p.L1175P

c.3524T>C

1 paper

NM_030582.4

p.G1354insFs

c.4061_4062insT

1 paper

NM_130444.3

p.G1590delFs

c.4768_4769delGG

5 papers

NM_001379500.1

p.N1172delFs

c.3514_3515delAA

1 paper

NM_030582.4

p.M1356_R1357insFs

c.4068_4069insC

1 paper

NM_030582.4

p.R1357_I1359delFs

c.4069_4076del8

1 paper

NM_030582.4

p.G1358_G1361del0

c.4074_4082del9

1 paper

NM_001379500.1

p.I1182insFs

c.3545dupT

1 paper

NM_001379500.1

p.L1168L

c.3502C>T