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.Y551delFs

c.1653delA

Surrounding Variants

1 paper

NM_024675.4

p.Q552*

c.1654C>T

1 paper

NM_024675.4

p.Y551del1

c.1651_1652delATA

2 papers

NM_024675.4

p.Y551insFs

c.1652dupA

27 papers

NM_024675.4

p.Y551*

c.1653T>G

1 paper

NM_024675.4

p.Y551Y

c.1653T>C

33 papers

NM_024675.4

p.Y551*

c.1653T>A

1 paper

NM_024675.4

p.Q552R

c.1655A>G

3 papers

NM_024675.4

p.Q552Q

c.1656G>A

1 paper

NM_024675.4

p.Y551N

c.1651T>A

2 papers

NM_024675.4

p.K550delFs

c.1650delT

1 paper

NM_024675.4

p.H553Y

c.1657C>T

1 paper

NM_024675.4

p.K550K

c.1650A>G