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.S270I

c.809G>T

Surrounding Variants

2 papers

NM_024675.4

p.S270N

c.809G>A

1 paper

NM_024675.4

p.S270R

c.810C>G

1 paper

NM_024675.4

p.S270R

c.810C>A

1 paper

NM_024675.4

p.S270C

c.808A>T

2 papers

NM_024675.4

p.S270G

c.808A>G

1 paper

NM_024675.4

p.S270R

c.808A>C

2 papers

NM_024675.4

p.G269G

c.807T>C

1 paper

NM_024675.4

p.G269G

c.807T>A

1 paper

NM_024675.4

p.H261_G269del0

c.783_806del24

1 paper

NM_024675.4

p.S271G

c.811A>G

1 paper

NM_024675.4

p.S271R

c.811A>C

1 paper

NM_024675.4

p.S270insFs

c.810dupC