Varaico: Literature-Extracted Genetic Variants

WRAP53

190 papers

RefSeq Summary

This gene encodes an essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex required for telomere synthesis. This protein is enriched in Cajal bodies, nuclear sites of R...

Pfam Domains

WD40aa 162–197UCSCWD domain, G-beta repeat

WD40aa 270–304UCSCWD domain, G-beta repeat

WD40aa 357–396UCSCWD domain, G-beta repeat

WD40aa 413–441UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat containing antisense to TP53

HGNC Previous Symbol

WDR79

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001143992.2

p.K388_D389Splc

c.1164+1G>A

Surrounding Variants

1 paper

NM_001143992.2

p.R387C

c.1159C>T

1 paper

NM_001143992.2

p.A386T

c.1156G>A

1 paper

NM_001143992.2

p.S384L

c.1151C>T

1 paper

NM_001143992.2

p.R381P

c.1142G>C

2 papers

NM_001143992.2

p.G379S

c.1135G>A

9 papers

NM_001143992.2

p.H376Y

c.1126C>T

1 paper

NM_001143992.2

p.A353V

c.1058C>T

1 paper

NM_001143992.2

p.Y352insFs

c.1054dupT

1 paper

NM_001143992.2

p.G350fs

c.1048_1049fs

4 papers

NM_001143992.2

p.Y345C

c.1034A>G

1 paper

NM_001143992.2

p.C342R

c.1024T>C

1 paper

NM_001143992.2

p.A336D

c.1007C>A