Varaico: Literature-Extracted Genetic Variants

COL14A1

170 papers

RefSeq Summary

This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril...

Pfam Domains

fn3aa 31–114UCSCFibronectin type III domain

VWAaa 158–329UCSCvon Willebrand factor type A domain

fn3aa 354–437UCSCFibronectin type III domain

fn3aa 444–529UCSCFibronectin type III domain

fn3aa 536–621UCSCFibronectin type III domain

fn3aa 625–709UCSCFibronectin type III domain

Gene Aliases

HGNC Name

collagen type XIV alpha 1 chain

HGNC Previous Symbol

UND

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021110.4

p.T357M

c.1070C>T

Surrounding Variants

1 paper

NM_021110.4

p.W373*

c.1118G>A

1 paper

NM_021110.4

p.W373*

c.1119G>A

1 paper

NM_021110.4

p.R384K

c.1151G>A

1 paper

NM_021110.4

p.S405C

c.1214C>G

2 papers

NM_021110.4

p.M413I

c.1239G>A

2 papers

NM_021110.4

p.M413I

c.1239G>C

2 papers

NM_021110.4

p.M413I

c.1239G>T

1 paper

NM_021110.4

p.S414Y

c.1241C>A

1 paper

NM_021110.4

p.I420T

c.1259T>C

1 paper

NM_021110.4

p.E438K

c.1312G>A

1 paper

NM_021110.4

p.L441F

c.1321C>T

1 paper

NM_021110.4

p.D453N

c.1357G>A