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.K957E

c.2869A>G

Surrounding Variants

3 papers

NM_024675.4

p.K957*

c.2869A>T

6 papers

NM_024675.4

p.K957Q

c.2869A>C

1 paper

NM_024675.4

p.E956D

c.2868A>T

1 paper

NM_024675.4

p.K957R

c.2870A>G

1 paper

NM_024675.4

p.E956D

c.2868A>C

1 paper

NM_024675.4

p.K957K

c.2871G>A

1 paper

NM_024675.4

p.E956V

c.2867A>T

1 paper

NM_024675.4

p.E956G

c.2867A>G

1 paper

NM_024675.4

p.E956A

c.2867A>C

3 papers

NM_024675.4

p.E956*

c.2866G>T

1 paper

NM_024675.4

p.E956Q

c.2866G>C

2 papers

NM_024675.4

p.E956K

c.2866G>A