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

3 papers

NM_024675.4

p.D927A

c.2780A>C

Surrounding Variants

2 papers

NM_024675.4

p.D927V

c.2780A>T

2 papers

NM_024675.4

p.D927G

c.2780A>G

1 paper

NM_024675.4

p.D927E

c.2781T>G

1 paper

NM_024675.4

p.D927D

c.2781T>C

1 paper

NM_024675.4

p.D927E

c.2781T>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.P926_D927insFs

c.2778_2779insG

1 paper

NM_024675.4

p.V928L

c.2782G>T

1 paper

NM_024675.4

p.V928L

c.2782G>C