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.P926H

c.2777C>A

Surrounding Variants

1 paper

NM_024675.4

p.P926L

c.2777C>T

2 papers

NM_024675.4

p.P926R

c.2777C>G

1 paper

NM_024675.4

p.P926insFs

c.2777_2778ins4

1 paper

NM_024675.4

p.P926_D927insFs

c.2778_2779insG

3 papers

NM_024675.4

p.P926S

c.2776C>T

1 paper

NM_024675.4

p.P926A

c.2776C>G

1 paper

NM_024675.4

p.P926T

c.2776C>A

1 paper

NM_024675.4

p.D927fs

c.2779_2780fs

1 paper

NM_024675.4

p.D927Y

c.2779G>T

1 paper

NM_024675.4

p.D927H

c.2779G>C

1 paper

NM_024675.4

p.D927N

c.2779G>A

1 paper

NM_024675.4

p.V925V

c.2775G>A