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.V928L

c.2782G>C

Surrounding Variants

1 paper

NM_024675.4

p.V928L

c.2782G>T

2 papers

NM_024675.4

p.V928M

c.2782G>A

1 paper

NM_024675.4

p.P926_D927del2

c.2776_2780del6

1 paper

NM_024675.4

p.V928G

c.2783T>G

1 paper

NM_024675.4

p.D927E

c.2781T>G

1 paper

NM_024675.4

p.V928A

c.2783T>C

1 paper

NM_024675.4

p.D927D

c.2781T>C

1 paper

NM_024675.4

p.V928E

c.2783T>A

1 paper

NM_024675.4

p.D927E

c.2781T>A

1 paper

NM_024675.4

p.V928V

c.2784G>T

3 papers

NM_024675.4

p.V928V

c.2784G>A

2 papers

NM_024675.4

p.D927V

c.2780A>T