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.L200*

c.599T>A

Surrounding Variants

1 paper

NM_024675.4

p.L200insFs

c.599_600insA

5 papers

NM_024675.4

p.L200*

c.599T>G

1 paper

NM_024675.4

p.L200S

c.599T>C

1 paper

NM_024675.4

p.L200L

c.600A>G

4 papers

NM_024675.4

p.L200fs

c.598_599fs

9 papers

NM_024675.4

p.L200delFs

c.599delA

1 paper

NM_024675.4

p.L199_L200insFs

c.597_598ins4

1 paper

NM_024675.4

p.S201G

c.601A>G

1 paper

NM_024675.4

p.S201R

c.601A>C

1 paper

NM_024675.4

p.L199insFs

c.596_597insG

2 papers

NM_024675.4

p.L199R

c.596T>G

1 paper

NM_024675.4

p.L199H

c.596T>A