Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.K967E

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.K967E
c.2899A>G
Surrounding Variants
1 paper
NM_024675.4
p.K967*
c.2899A>T
1 paper
NM_024675.4
p.K967Q
c.2899A>C
1 paper
NM_024675.4
p.K967I
c.2900A>T
1 paper
NM_024675.4
p.I966I
c.2898A>T
1 paper
NM_024675.4
p.K967R
c.2900A>G
1 paper
NM_024675.4
p.I966M
c.2898A>G
1 paper
NM_024675.4
p.K967T
c.2900A>C
1 paper
NM_024675.4
p.I966R
c.2897T>G
8 papers
NM_024675.4
p.I966T
c.2897T>C
1 paper
NM_024675.4
p.I966K
c.2897T>A
1 paper
NM_024675.4
p.K967N
c.2901A>T
1 paper
NM_024675.4
p.K967K
c.2901A>G
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