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

8 papers

NM_024675.4

p.L671*

c.2012T>G

Surrounding Variants

2 papers

NM_024675.4

p.L671S

c.2012T>C

8 papers

NM_024675.4

p.L671*

c.2012T>A

1 paper

NM_024675.4

p.L671fs

c.2011_2012fs

1 paper

NM_024675.4

p.E672*

c.2014G>T

69 papers

NM_024675.4

p.E672Q

c.2014G>C

1 paper

NM_024675.4

p.D670E

c.2010C>G

1 paper

NM_024675.4

p.D670E

c.2010C>A

1 paper

NM_024675.4

p.E672delFs

c.2014delC

1 paper

NM_024675.4

p.E672D

c.2016A>T

1 paper

NM_024675.4

p.E672D

c.2016A>C

1 paper

NM_024675.4

p.E673*

c.2017G>T

3 papers

NM_024675.4

p.E672insFs

c.2016dupA