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

2 papers

NM_024675.4

p.K883E

c.2647A>G

Surrounding Variants

1 paper

NM_024675.4

p.K883Q

c.2647A>C

6 papers

NM_024675.4

p.G881_C882insFs

c.2642_2645dup4

1 paper

NM_024675.4

p.C882fs

c.2644_2645fs

1 paper

NM_024675.4

p.C882W

c.2646T>G

1 paper

NM_024675.4

p.K883I

c.2648A>T

1 paper

NM_024675.4

p.K883R

c.2648A>G

1 paper

NM_024675.4

p.K883T

c.2648A>C

1 paper

NM_024675.4

p.C882F

c.2645G>T

1 paper

NM_024675.4

p.C882S

c.2645G>C

2 papers

NM_024675.4

p.C882Y

c.2645G>A

2 papers

NM_024675.4

p.K883N

c.2649A>T

1 paper

NM_024675.4

p.K883K

c.2649A>G