Varaico: Literature-Extracted Genetic Variants

COL25A1

106 papers

RefSeq Summary

This gene encodes a brain-specific membrane associated collagen. A product of proteolytic processing of the encoded protein, CLAC (collagenous Alzheimer amyloid plaque component), binds to amyloid bet...

Pfam Domains

Collagenaa 118–165UCSCCollagen triple helix repeat (20 copies)

Collagenaa 187–250UCSCCollagen triple helix repeat (20 copies)

Collagenaa 309–372UCSCCollagen triple helix repeat (20 copies)

Collagenaa 352–409UCSCCollagen triple helix repeat (20 copies)

Collagenaa 371–427UCSCCollagen triple helix repeat (20 copies)

Collagenaa 447–505UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type XXV alpha 1 chain

HGNC Previous Name

collagen, type XXV, alpha 1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 149 variants

8 papers

NM_198721.4

p.G382R

c.1144G>A

7 papers

NM_198721.4

p.G382R

c.1144G>C

7 papers

NM_198721.4

p.G400R

c.1198G>A

7 papers

NM_198721.4

p.G497*

c.1489G>T

6 papers

NM_198721.4

p.G400R

c.1198G>C

3 papers

NM_198721.4

p.P224_G225Splc

c.672+1G>A

3 papers

NM_198721.4

p.K484E

c.1450A>G

2 papers

NM_198721.4

p.S116L

c.347C>T

2 papers

NM_198721.4

p.G225C

c.673G>T

2 papers

NM_198721.4

p.K287_G288Splc

c.861+169T>G

2 papers

NM_198721.4

p.R402C

c.1204C>T

2 papers

NM_198721.4

p.P520L

c.1559C>T