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.E1366*

c.4096G>T

Surrounding Variants

1 paper

NM_021110.4

p.E1366G

c.4097A>G

1 paper

NM_021110.4

p.V1369A

c.4106T>C

1 paper

NM_021110.4

p.V1369V

c.4107C>A

1 paper

NM_021110.4

p.A1385T

c.4153G>A

1 paper

NM_021110.4

p.T1390M

c.4169C>T

1 paper

NM_021110.4

p.D1392N

c.4174G>A

1 paper

NM_021110.4

p.D1392Y

c.4174G>T

1 paper

NM_021110.4

p.V1396M

c.4186G>A

6 papers

NM_021110.4

p.V1342L

c.4024G>C

1 paper

NM_021110.4

p.Q1335Q

c.4005G>A

1 paper

NM_021110.4

p.D1334N

c.4000G>A

1 paper

NM_021110.4

p.G1325fs

c.3973_3974fs