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

5 papers

NM_024675.4

p.S220delFs

c.658delT

Surrounding Variants

1 paper

NM_024675.4

p.S220T

c.659G>C

1 paper

NM_024675.4

p.S220N

c.659G>A

2 papers

NM_024675.4

p.S220fs

c.658_659fs

2 papers

NM_024675.4

p.S220R

c.660T>G

1 paper

NM_024675.4

p.S220S

c.660T>C

2 papers

NM_024675.4

p.S220R

c.660T>A

1 paper

NM_024675.4

p.S220delFs

c.659delC

1 paper

NM_024675.4

p.S220delFs

c.658_659delCT

3 papers

NM_024675.4

p.S220fs

c.658_659fs

1 paper

NM_024675.4

p.S220G

c.658A>G

2 papers

NM_024675.4

p.S220R

c.658A>C

5 papers

NM_024675.4

p.V221I

c.661G>A