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.L53F

c.159G>C

Surrounding Variants

1 paper

NM_001143992.2

p.L53F

c.159G>T

1 paper

NM_001143992.2

p.D56H

c.166G>C

1 paper

NM_001143992.2

p.G60G

c.180C>G

1 paper

NM_001143992.2

p.E46V

c.137A>T

3 papers

NM_001143992.2

p.V63M

c.187G>A

2 papers

NM_001143992.2

p.S64A

c.190T>G

1 paper

NM_001143992.2

p.P42P

c.126A>G

1 paper

NM_001143992.2

p.P42P

c.126A>T

1 paper

NM_001143992.2

p.E66K

c.196G>A

17 papers

NM_001143992.2

p.R68G

c.202C>G

1 paper

NM_001143992.2

p.P72_T77delFs

c.216_229del14

1 paper

NM_001143992.2

p.L75_S76delFs

c.224_227del4