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

58 papers

NM_024675.4

p.P864S

c.2590C>T

Surrounding Variants

1 paper

NM_024675.4

p.P864fs

c.2590_2591fs

1 paper

NM_024675.4

p.P864A

c.2590C>G

1 paper

NM_024675.4

p.P864T

c.2590C>A

1 paper

NM_024675.4

p.N863fs

c.2587_2588fs

2 papers

NM_024675.4

p.N863insFs

c.2588dupA

1 paper

NM_024675.4

p.N863K

c.2589T>G

2 papers

NM_024675.4

p.N863K

c.2589T>A

1 paper

NM_024675.4

p.N863delFs

c.2587_2588delTT

1 paper

NM_024675.4

p.P864L

c.2591C>T

1 paper

NM_024675.4

p.P864R

c.2591C>G

2 papers

NM_024675.4

p.P864H

c.2591C>A

1 paper

NM_024675.4

p.P864P

c.2592T>C