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.Y929C

c.2786A>G

Surrounding Variants

1 paper

NM_024675.4

p.Y929F

c.2786A>T

2 papers

NM_024675.4

p.Y929S

c.2786A>C

1 paper

NM_024675.4

p.Y929insFs

c.2786dupA

2 papers

NM_024675.4

p.Y929*

c.2787T>G

1 paper

NM_024675.4

p.Y929D

c.2785T>G

1 paper

NM_024675.4

p.Y929Y

c.2787T>C

1 paper

NM_024675.4

p.Y929H

c.2785T>C

2 papers

NM_024675.4

p.Y929*

c.2787T>A

1 paper

NM_024675.4

p.Y929N

c.2785T>A

1 paper

NM_024675.4

p.V928V

c.2784G>T

3 papers

NM_024675.4

p.V928V

c.2784G>A

1 paper

NM_024675.4

p.N930Y

c.2788A>T