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.Q506E

c.1516C>G

Surrounding Variants

1 paper

NM_024675.4

p.Q506*

c.1516C>T

1 paper

NM_024675.4

p.A505A

c.1515C>T

1 paper

NM_024675.4

p.A505A

c.1515C>A

1 paper

NM_024675.4

p.Q506Q

c.1518A>G

1 paper

NM_024675.4

p.A505P

c.1513G>C

1 paper

NM_024675.4

p.A507T

c.1519G>A

1 paper

NM_024675.4

p.A505T

c.1513G>A

1 paper

NM_024675.4

p.V504I

c.1510G>A

1 paper

NM_024675.4

p.P508S

c.1522C>T

1 paper

NM_024675.4

p.A503delFs

c.1508delG

1 paper

NM_024675.4

p.P508P

c.1524T>C

1 paper

NM_024675.4

p.A503V

c.1508C>T