Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.G999Splc

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
3 papers
NM_024675.4
p.G999Splc
c.2996+17T>C
Surrounding Variants
1 paper
NM_024675.4
p.G999Splc
c.2996+13T>C
1 paper
NM_024675.4
p.G999Splc
c.2996+10G>T
1 paper
NM_024675.4
p.G999Splc
c.2996+10G>C
1 paper
NM_024675.4
p.G999Splc
c.2996+10G>A
2 papers
NM_024675.4
p.G999Splc
c.2996+9A>G
1 paper
NM_024675.4
p.G999Splc
c.2996+8A>G
1 paper
NM_024675.4
p.G999Splc
c.2996+8A>C
1 paper
NM_024675.4
p.G999Splc
c.2996+5G>T
2 papers
NM_024675.4
p.G999Splc
c.2996+4A>G
1 paper
NM_024675.4
p.G999Splc
c.2996+3A>C
2 papers
NM_024675.4
p.G999Splc
c.2996+2T>C
2 papers
NM_024675.4
p.G999Splc
c.2996+1G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."