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.R510K

c.1529G>A

Surrounding Variants

1 paper

NM_024675.4

p.R510G

c.1528A>G

2 papers

NM_024675.4

p.P508_G509del2

c.1522_1526del6

47 papers

NM_024675.4

p.G509_R510del2

c.1525_1529del6

1 paper

NM_024675.4

p.G509fs

c.1525_1526fs

1 paper

NM_024675.4

p.P508delFs

c.1524delA

1 paper

NM_024675.4

p.P508P

c.1524T>C

1 paper

NM_024675.4

p.Y512N

c.1534T>A

1 paper

NM_024675.4

p.Y512fs

c.1534_1535fs

1 paper

NM_024675.4

p.Y512C

c.1535A>G

1 paper

NM_024675.4

p.P508S

c.1522C>T

3 papers

NM_024675.4

p.Y512*

c.1536C>G

1 paper

NM_024675.4

p.Y512insFs

c.1535dupA