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.L199_L200insFs

c.597_598ins4

Surrounding Variants

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

1 paper

NM_024675.4

p.L199delFs

c.595delG

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

5 papers

NM_024675.4

p.L200*

c.599T>A

3 papers

NM_024675.4

p.L199F

c.595C>T

2 papers

NM_024675.4

p.L199I

c.595C>A

1 paper

NM_024675.4

p.H198H

c.594C>T

1 paper

NM_024675.4

p.L200L

c.600A>G