Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.K899R

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.K899R
c.2696A>G
Surrounding Variants
2 papers
NM_024675.4
p.K899I
c.2696A>T
1 paper
NM_024675.4
p.K899T
c.2696A>C
2 papers
NM_024675.4
p.K899N
c.2697A>T
1 paper
NM_024675.4
p.K899E
c.2695A>G
2 papers
NM_024675.4
p.K899N
c.2697A>C
1 paper
NM_024675.4
p.K899Q
c.2695A>C
1 paper
NM_024675.4
p.A900S
c.2698G>T
1 paper
NM_024675.4
p.W898C
c.2694G>T
1 paper
NM_024675.4
p.A900P
c.2698G>C
1 paper
NM_024675.4
p.W898C
c.2694G>C
10 papers
NM_024675.4
p.W898*
c.2694G>A
1 paper
NM_024675.4
p.A900T
c.2698G>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."