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.P924A

c.2770C>G

Surrounding Variants

1 paper

NM_024675.4

p.P924S

c.2770C>T

1 paper

NM_024675.4

p.P924T

c.2770C>A

2 papers

NM_024675.4

p.P924fs

c.2770_2771fs

2 papers

NM_024675.4

p.P924L

c.2771C>T

2 papers

NM_024675.4

p.P924R

c.2771C>G

1 paper

NM_024675.4

p.P924Q

c.2771C>A

1 paper

NM_024675.4

p.V923G

c.2768T>G

1 paper

NM_024675.4

p.V923A

c.2768T>C

1 paper

NM_024675.4

p.V923D

c.2768T>A

1 paper

NM_024675.4

p.V923delFs

c.2767delC

4 papers

NM_024675.4

p.P924delFs

c.2771delG

2 papers

NM_024675.4

p.V923fs

c.2767_2768fs