Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.K95insFs

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.K95insFs
c.284_285insG
Surrounding Variants
1 paper
NM_024675.4
p.K95M
c.284A>T
1 paper
NM_024675.4
p.K95R
c.284A>G
1 paper
NM_024675.4
p.K95T
c.284A>C
1 paper
NM_024675.4
p.T92_E94del3
c.274_281del9
1 paper
NM_024675.4
p.K95N
c.285G>T
1 paper
NM_024675.4
p.K95N
c.285G>C
2 papers
NM_024675.4
p.K95K
c.285G>A
2 papers
NM_024675.4
p.E94delFs
c.282delT
1 paper
NM_024675.4
p.E91_K95del0
c.273_284del12
1 paper
NM_024675.4
p.K95E
c.283A>G
1 paper
NM_024675.4
p.K95Q
c.283A>C
1 paper
NM_024675.4
p.K95_T96ins6
c.283_287ins18
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