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.G481S

c.1441G>A

Surrounding Variants

1 paper

NM_001143992.2

p.Q482H

c.1446G>C

1 paper

NM_001143992.2

p.Q482H

c.1446G>T

1 paper

NM_001143992.2

p.P488_T489del2

c.1462_1466del6

1 paper

NM_001143992.2

p.T489R

c.1466C>G

1 paper

NM_001143992.2

p.S491_L498del8

c.1471_1493del24

1 paper

NM_001143992.2

p.G495V

c.1484G>T

1 paper

NM_001143992.2

p.G499R

c.1495G>C

1 paper

NM_001143992.2

p.V508I

c.1522G>A

1 paper

NM_001143992.2

p.R513G

c.1537C>G

4 papers

NM_001143992.2

p.C519fs

c.1555_1556fs

1 paper

NM_001143992.2

p.C519delFs

c.1557delT

9 papers

NM_001143992.2

p.A522insFs

c.1564dupG