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

8 papers

NM_021110.4

p.N563H

c.1687A>C

Surrounding Variants

1 paper

NM_021110.4

p.R566Q

c.1697G>A

1 paper

NM_021110.4

p.V568I

c.1702G>A

1 paper

NM_021110.4

p.R552Q

c.1655G>A

1 paper

NM_021110.4

p.R552fs

c.1654_1655fs

1 paper

NM_021110.4

p.S550N

c.1649G>A

1 paper

NM_021110.4

p.S550_A551insAAT

c.1648_1652ins9

1 paper

NM_021110.4

p.R542T

c.1625G>C

1 paper

NM_021110.4

p.T531S

c.1591A>T

1 paper

NM_021110.4

p.G519_S523delFs

c.1555_1568del14

1 paper

NM_021110.4

p.F518_A522delFs

c.1552_1565del14

1 paper

NM_021110.4

p.D498N

c.1492G>A

1 paper

NM_021110.4

p.I492V

c.1474A>G