Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.P65S

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.P65S
c.193C>T
Surrounding Variants
1 paper
NM_024675.4
p.P65A
c.193C>G
1 paper
NM_024675.4
p.S64insFs
c.192dupA
1 paper
NM_024675.4
p.P65T
c.193C>A
1 paper
NM_024675.4
p.S64delFs
c.192delT
15 papers
NM_024675.4
p.P65L
c.194C>T
3 papers
NM_024675.4
p.P65R
c.194C>G
1 paper
NM_024675.4
p.P65insFs
c.194_195insA
2 papers
NM_024675.4
p.P65Q
c.194C>A
1 paper
NM_024675.4
p.S64S
c.192A>G
1 paper
NM_024675.4
p.P65P
c.195G>T
1 paper
NM_024675.4
p.P65_Q66insFs
c.195_196insA
2 papers
NM_024675.4
p.P65P
c.195G>A
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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."