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.R1117Splc

c.3351-48G>T

Surrounding Variants

1 paper

NM_024675.4

p.R1117Splc

c.3351-41G>T

1 paper

NM_024675.4

p.R1117Splc

c.3351-39A>T

1 paper

NM_024675.4

p.R1117Splc

c.3351-19C>A

1 paper

NM_024675.4

p.R1117Splc

c.3351-10A>G

1 paper

NM_024675.4

p.R1117Splc

c.3351-9T>C

1 paper

NM_024675.4

p.R1117Splc

c.3351-6T>C

1 paper

NM_024675.4

p.R1117Splc

c.3351-5A>G

1 paper

NM_024675.4

p.R1117Splc

c.3351-5A>C

1 paper

NM_024675.4

p.R1117Splc

c.3351-4T>C

1 paper

NM_024675.4

p.R1117Splc

c.3351-2A>T

1 paper

NM_024675.4

p.R1117Splc

c.3351-2A>G

3 papers

NM_024675.4

p.R1117Splc

c.3351-1G>C