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

3 papers

NM_021110.4

p.G967E

c.2900G>A

Surrounding Variants

1 paper

NM_021110.4

p.G968R

c.2902G>A

1 paper

NM_021110.4

p.G968R

c.2902G>C

2 papers

NM_021110.4

p.G966G

c.2898T>A

1 paper

NM_021110.4

p.Q961fs

c.2881_2882fs

1 paper

NM_021110.4

p.F974S

c.2921T>C

1 paper

NM_021110.4

p.K960insFs

c.2879dupA

1 paper

NM_021110.4

p.E993*

c.2977G>T

1 paper

NM_021110.4

p.I1001K

c.3002T>A

1 paper

NM_021110.4

p.T1005fs

c.3013_3014fs

1 paper

NM_021110.4

p.S1007*

c.3020C>A

1 paper

NM_021110.4

p.S1007*

c.3020C>G

1 paper

NM_021110.4

p.L1008F

c.3022C>T