Varaico: Literature-Extracted Genetic Variants

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.T197S

c.590C>G

Surrounding Variants

1 paper

NM_024675.4

p.T197I

c.590C>T

1 paper

NM_024675.4

p.T197T

c.591T>C

1 paper

NM_024675.4

p.T197S

c.589A>T

1 paper

NM_024675.4

p.H198Y

c.592C>T

1 paper

NM_024675.4

p.R196I

c.587G>T

1 paper

NM_024675.4

p.R196T

c.587G>C

1 paper

NM_024675.4

p.R196K

c.587G>A

1 paper

NM_024675.4

p.H198P

c.593A>C

1 paper

NM_024675.4

p.H198delFs

c.592delG

1 paper

NM_024675.4

p.H198H

c.594C>T

2 papers

NM_024675.4

p.R196*

c.586A>T

1 paper

NM_024675.4

p.R196R

c.586A>C