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.N863Y

c.2587A>T

Surrounding Variants

6 papers

NM_024675.4

p.N863fs

c.2587_2588fs

1 paper

NM_024675.4

p.N863D

c.2587A>G

1 paper

NM_024675.4

p.N863H

c.2587A>C

1 paper

NM_024675.4

p.K862_N863Splc

c.2587-1G>T

5 papers

NM_024675.4

p.K862_N863Splc

c.2587-1G>C

1 paper

NM_024675.4

p.N863I

c.2588A>T

1 paper

NM_024675.4

p.N863S

c.2588A>G

1 paper

NM_024675.4

p.N863T

c.2588A>C

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