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

7 papers

NM_024675.4

p.E71Splc

c.212-1G>A

Surrounding Variants

1 paper

NM_024675.4

p.E71Q

c.211G>C

2 papers

NM_024675.4

p.E71V

c.212A>T

8 papers

NM_024675.4

p.E71Splc

c.212-2A>G

2 papers

NM_024675.4

p.E71G

c.212A>G

1 paper

NM_024675.4

p.E71A

c.212A>C

1 paper

NM_024675.4

p.E71Splc

c.212-2A>C

2 papers

NM_024675.4

p.E71fs

c.211_212fs

2 papers

NM_024675.4

p.E71D

c.213A>T

2 papers

NM_024675.4

p.E71D

c.213A>C

1 paper

NM_024675.4

p.E71_P72insFs

c.213_214insT

1 paper

NM_024675.4

p.P72fs

c.214_215fs

2 papers

NM_024675.4

p.P72S

c.214C>T