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

1–12 of 144 variants

17 papers

NM_001143992.2

p.R68G

c.202C>G

12 papers

NM_001143992.2

p.R398W

c.1192C>T

9 papers

NM_001143992.2

p.H376Y

c.1126C>T

9 papers

NM_001143992.2

p.G435R

c.1303G>A

9 papers

NM_001143992.2

p.G435R

c.1303G>C

9 papers

NM_001143992.2

p.A522insFs

c.1564dupG

8 papers

NM_001143992.2

p.F164L

c.490T>C

8 papers

NM_001143992.2

p.F164L

c.492C>A

8 papers

NM_001143992.2

p.F164L

c.492C>G

8 papers

NM_001143992.2

p.A522fs

c.1564_1565fs

5 papers

NM_001143992.2

p.A522G

c.1565C>G

4 papers

NM_001143992.2

p.T6delFs

c.17_18delCT