Varaico: Literature-Extracted Genetic Variants

COL12A1

321 papers

RefSeq Summary

This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in ...

Pfam Domains

fn3aa 26–109UCSCFibronectin type III domain

VWAaa 140–311UCSCvon Willebrand factor type A domain

fn3aa 335–419UCSCFibronectin type III domain

VWAaa 440–611UCSCvon Willebrand factor type A domain

fn3aa 633–719UCSCFibronectin type III domain

fn3aa 724–806UCSCFibronectin type III domain

Gene Aliases

HGNC Name

collagen type XII alpha 1 chain

HGNC Previous Symbol

COL12A1L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004370.6

p.F2376L

c.7128C>A

Surrounding Variants

1 paper

NM_004370.6

p.F2376L

c.7128C>G

1 paper

NM_004370.6

p.F2376L

c.7126T>C

1 paper

NM_004370.6

p.S2374C

c.7121C>G

1 paper

NM_004370.6

p.D2370N

c.7108G>A

1 paper

NM_004370.6

p.L2391I

c.7171C>A

1 paper

NM_004370.6

p.Q2392*

c.7174C>T

1 paper

NM_004370.6

p.Q2392H

c.7176G>T

1 paper

NM_004370.6

p.Q2392H

c.7176G>C

1 paper

NM_004370.6

p.Y2396H

c.7186T>C

1 paper

NM_004370.6

p.G2398R

c.7192G>C

1 paper

NM_004370.6

p.G2398R

c.7192G>A

5 papers

NM_004370.6

p.G2399E

c.7196G>A