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.F404L

c.1210T>C

Surrounding Variants

1 paper

NM_024675.4

p.F404fs

c.1210_1211fs

1 paper

NM_024675.4

p.L403delFs

c.1209delC

3 papers

NM_024675.4

p.L403fs

c.1207_1208fs

1 paper

NM_024675.4

p.L403L

c.1209G>C

1 paper

NM_024675.4

p.L403L

c.1209G>A

1 paper

NM_024675.4

p.L402_L403del1

c.1206_1208delAGA

1 paper

NM_024675.4

p.F404fs

c.1210_1211fs

2 papers

NM_024675.4

p.F404L

c.1212T>G

1 paper

NM_024675.4

p.L403R

c.1208T>G

2 papers

NM_024675.4

p.F404L

c.1212T>A

1 paper

NM_024675.4

p.L403fs

c.1207_1208fs

1 paper

NM_024675.4

p.P405S

c.1213C>T