Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.T458I

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.T458I
c.1373C>T
Surrounding Variants
1 paper
NM_024675.4
p.T458S
c.1373C>G
1 paper
NM_024675.4
p.T458T
c.1374T>C
1 paper
NM_024675.4
p.T458S
c.1372A>T
1 paper
NM_024675.4
p.T458A
c.1372A>G
1 paper
NM_024675.4
p.D459N
c.1375G>A
1 paper
NM_024675.4
p.E457D
c.1371A>T
1 paper
NM_024675.4
p.E457E
c.1371A>G
1 paper
NM_024675.4
p.E457D
c.1371A>C
1 paper
NM_024675.4
p.D459V
c.1376A>T
1 paper
NM_024675.4
p.E457V
c.1370A>T
2 papers
NM_024675.4
p.D459G
c.1376A>G
1 paper
NM_024675.4
p.E457G
c.1370A>G
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