Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.S955R

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
4 papers
NM_024675.4
p.S955R
c.2863A>C
Surrounding Variants
1 paper
NM_024675.4
p.S955C
c.2863A>T
1 paper
NM_024675.4
p.S955G
c.2863A>G
1 paper
NM_024675.4
p.S955I
c.2864G>T
1 paper
NM_024675.4
p.S955T
c.2864G>C
1 paper
NM_024675.4
p.S955N
c.2864G>A
1 paper
NM_024675.4
p.S955delFs
c.2863delT
1 paper
NM_024675.4
p.E954D
c.2862A>T
1 paper
NM_024675.4
p.E954D
c.2862A>C
4 papers
NM_024675.4
p.S955R
c.2865T>G
4 papers
NM_024675.4
p.S955R
c.2865T>A
1 paper
NM_024675.4
p.R945_S955del0
c.2835_2864del30
1 paper
NM_024675.4
p.E954V
c.2861A>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."