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

2 papers

NM_024675.4

p.S865S

c.2595A>G

Surrounding Variants

3 papers

NM_024675.4

p.S865S

c.2595A>T

2 papers

NM_024675.4

p.S865delFs

c.2594delG

3 papers

NM_024675.4

p.G866C

c.2596G>T

1 paper

NM_024675.4

p.G866R

c.2596G>C

4 papers

NM_024675.4

p.G866S

c.2596G>A

3 papers

NM_024675.4

p.S865L

c.2594C>T

3 papers

NM_024675.4

p.S865*

c.2594C>G

3 papers

NM_024675.4

p.S865*

c.2594C>A

1 paper

NM_024675.4

p.S865A

c.2593T>G

3 papers

NM_024675.4

p.S865P

c.2593T>C

1 paper

NM_024675.4

p.S865T

c.2593T>A

3 papers

NM_024675.4

p.G866V

c.2597G>T