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.G999Splc

c.2996+2T>C

Surrounding Variants

2 papers

NM_024675.4

p.G999Splc

c.2996+1G>T

1 paper

NM_024675.4

p.G999Splc

c.2996+1G>A

1 paper

NM_024675.4

p.G999Splc

c.2996+3A>C

1 paper

NM_024675.4

p.G999V

c.2996G>T

2 papers

NM_024675.4

p.G999Splc

c.2996+4A>G

1 paper

NM_024675.4

p.G999Splc

c.2996+5G>T

1 paper

NM_024675.4

p.G998G

c.2994A>G

3 papers

NM_024675.4

p.G998A

c.2993G>C

89 papers

NM_024675.4

p.G998E

c.2993G>A

1 paper

NM_024675.4

p.G998R

c.2992G>C

1 paper

NM_024675.4

p.G998R

c.2992G>A

1 paper

NM_024675.4

p.G999Splc

c.2996+8A>G