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.E669fs

c.2005_2006fs

Surrounding Variants

1 paper

NM_024675.4

p.E669Q

c.2005G>C

1 paper

NM_024675.4

p.E669K

c.2005G>A

1 paper

NM_024675.4

p.M668delFs

c.2002delT

8 papers

NM_024675.4

p.E669delFs

c.2006delT

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.E667*

c.1999G>T

1 paper

NM_024675.4

p.E667Q

c.1999G>C

1 paper

NM_024675.4

p.M664_T666del3

c.1990_1997del9

8 papers

NM_024675.4

p.L671*

c.2012T>G

2 papers

NM_024675.4

p.L671S

c.2012T>C

8 papers

NM_024675.4

p.L671*

c.2012T>A