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.S1007*

c.3020C>G

Surrounding Variants

1 paper

NM_021110.4

p.S1007*

c.3020C>A

1 paper

NM_021110.4

p.L1008F

c.3022C>T

2 papers

NM_021110.4

p.R1011*

c.3031C>T

1 paper

NM_021110.4

p.R1011L

c.3032G>T

1 paper

NM_021110.4

p.I1019F

c.3055A>T

1 paper

NM_021110.4

p.P1020S

c.3058C>T

1 paper

NM_021110.4

p.A1029T

c.3085G>A

1 paper

NM_021110.4

p.M1036I

c.3108G>A

1 paper

NM_021110.4

p.M1036I

c.3108G>C

1 paper

NM_021110.4

p.M1036I

c.3108G>T

1 paper

NM_021110.4

p.D1038D

c.3114T>C

1 paper

NM_021110.4

p.S1040F

c.3119C>T