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.G3036G

c.9108A>G

Surrounding Variants

1 paper

NM_004370.6

p.P3037L

c.9110C>T

1 paper

NM_004370.6

p.R3035*

c.9103C>T

1 paper

NM_004370.6

p.S3046S

c.9138T>G

1 paper

NM_004370.6

p.P3026S

c.9076C>T

1 paper

NM_004370.6

p.G3024A

c.9071G>C

1 paper

NM_004370.6

p.P3023L

c.9068C>T

1 paper

NM_004370.6

p.P3053S

c.9157C>T

2 papers

NM_004370.6

p.G3056V

c.9167G>T

1 paper

NM_004370.6

p.Q3057*

c.9169C>T

14 papers

NM_004370.6

p.G3058S

c.9172G>A

1 paper

NM_004370.6

p.T2991A

c.8971A>G

1 paper

NM_004370.6

p.R2989fs

c.8965_8966fs