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.G2984R

c.8950G>C

Surrounding Variants

1 paper

NM_004370.6

p.G2984R

c.8950G>A

1 paper

NM_004370.6

p.G2984E

c.8951G>A

1 paper

NM_004370.6

p.E2988*

c.8962G>T

1 paper

NM_004370.6

p.R2989delFs

c.8965delT

1 paper

NM_004370.6

p.R2989fs

c.8965_8966fs

1 paper

NM_004370.6

p.T2991A

c.8971A>G

5 papers

NM_004370.6

p.R2980*

c.8938C>T

3 papers

NM_004370.6

p.P2968L

c.8903C>T

1 paper

NM_004370.6

p.P2968Q

c.8903C>A

1 paper

NM_004370.6

p.R2964fs

c.8890_8891fs

1 paper

NM_004370.6

p.G2963insFs

c.8889dupG

1 paper

NM_004370.6

p.G2962delFs

c.8885_8886delCC