Varaico: Literature-Extracted Genetic Variants

PALB2

2,283 papers

RefSeq Summary

This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the st...

Pfam Domains

PALB2_WD40aa 542–889UCSCPartner and localizer of BRCA2 WD40 domain

PALB2_WD40aa 1039–1105UCSCPartner and localizer of BRCA2 WD40 domain

Gene Aliases

HGNC Name

partner and localizer of BRCA2

HGNC Alias Symbols

FLJ21816; FANCN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024675.4

p.G232A

c.695G>C

Surrounding Variants

2 papers

NM_024675.4

p.G232V

c.695G>T

1 paper

NM_024675.4

p.G232D

c.695G>A

6 papers

NM_024675.4

p.G232fs

c.694_695fs

1 paper

NM_024675.4

p.G232G

c.696T>C

10 papers

NM_024675.4

p.G232delFs

c.695delC

7 papers

NM_024675.4

p.G232fs

c.694_695fs

1 paper

NM_024675.4

p.G232C

c.694G>T

2 papers

NM_024675.4

p.K231insFs

c.693dupA

2 papers

NM_024675.4

p.K231delFs

c.693delT

4 papers

NM_024675.4

p.V233fs

c.697_698fs

2 papers

NM_024675.4

p.G232insFs

c.696dupT

1 paper

NM_024675.4

p.V233_D234insT

c.697_701ins3