Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.W1038Splc

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.W1038Splc
c.3113+10C>T
Surrounding Variants
1 paper
NM_024675.4
p.W1038Splc
c.3113+9T>G
1 paper
NM_024675.4
p.W1038Splc
c.3113+11C>T
1 paper
NM_024675.4
p.W1038Splc
c.3113+8T>C
1 paper
NM_024675.4
p.W1038Splc
c.3113+12C>G
1 paper
NM_024675.4
p.W1038Splc
c.3113+12C>A
1 paper
NM_024675.4
p.W1038Splc
c.3113+14C>T
14 papers
NM_024675.4
p.W1038Splc
c.3113+5G>C
3 papers
NM_024675.4
p.W1038Splc
c.3113+5G>A
1 paper
NM_024675.4
p.W1038Splc
c.3113+16A>G
4 papers
NM_024675.4
p.G1028_W1038delFs
c.3083_3113del31
1 paper
NM_024675.4
p.W1038Splc
c.3113+17G>T
2 papers
NM_024675.4
p.W1038Splc
c.3113+3A>G
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