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.T1216N

c.3647C>A

Surrounding Variants

1 paper

NM_021110.4

p.E1211K

c.3631G>A

1 paper

NM_021110.4

p.E1211Q

c.3631G>C

1 paper

NM_021110.4

p.C1210C

c.3630C>T

1 paper

NM_021110.4

p.A1197T

c.3589G>A

1 paper

NM_021110.4

p.F1195V

c.3583T>G

1 paper

NM_021110.4

p.R1187H

c.3560G>A

1 paper

NM_021110.4

p.A1186T

c.3556G>A

1 paper

NM_021110.4

p.G1168G

c.3504T>C

1 paper

NM_021110.4

p.K1222N

c.3666G>C

1 paper

NM_021110.4

p.K1222N

c.3666G>T

2 papers

NM_021110.4

p.M1235I

c.3705G>A

2 papers

NM_021110.4

p.M1235I

c.3705G>C