Varaico: Literature-Extracted Genetic Variants

COL5A2

330 papers

RefSeq Summary

This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen i...

Pfam Domains

VWCaa 41–96UCSCvon Willebrand factor type C domain

Collagenaa 125–187UCSCCollagen triple helix repeat (20 copies)

Collagenaa 209–272UCSCCollagen triple helix repeat (20 copies)

Collagenaa 250–329UCSCCollagen triple helix repeat (20 copies)

Collagenaa 639–708UCSCCollagen triple helix repeat (20 copies)

Collagenaa 1113–1182UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type V alpha 2 chain

HGNC Previous Name

collagen, type V, alpha 2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 545 variants

7 papers

NM_000393.5

p.T105T

c.315C>A

7 papers

NM_000393.5

p.P659P

c.1977G>A

7 papers

NM_000393.5

p.T1230R

c.3689C>G

6 papers

NM_000393.5

p.T434M

c.1301C>T

6 papers

NM_000393.5

p.P437P

c.1311A>G

6 papers

NM_000393.5

p.G1137G

c.3411T>C

6 papers

NM_000393.5

p.P1223L

c.3668C>T

5 papers

NM_000393.5

p.R155C

c.463C>T

5 papers

NM_000393.5

p.P460S

c.1378C>T

4 papers

NM_000393.5

p.M2T

c.5T>C

4 papers

NM_000393.5

p.P833_G834Splc

c.2499+2T>C

4 papers

NM_000393.5

p.R952C

c.2854C>T