Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.D953H

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
1 paper
NM_024675.4
p.D953H
c.2857G>C
Surrounding Variants
1 paper
NM_024675.4
p.D953Y
c.2857G>T
1 paper
NM_024675.4
p.D953N
c.2857G>A
1 paper
NM_024675.4
p.D952E
c.2856T>G
1 paper
NM_024675.4
p.D952E
c.2856T>A
1 paper
NM_024675.4
p.D953V
c.2858A>T
1 paper
NM_024675.4
p.D953G
c.2858A>G
1 paper
NM_024675.4
p.D953A
c.2858A>C
2 papers
NM_024675.4
p.D953E
c.2859T>G
1 paper
NM_024675.4
p.D953D
c.2859T>C
2 papers
NM_024675.4
p.D953E
c.2859T>A
1 paper
NM_024675.4
p.D952V
c.2855A>T
1 paper
NM_024675.4
p.D952G
c.2855A>G
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