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

1 paper

NM_024675.4

p.D772D

c.2316T>C

Surrounding Variants

2 papers

NM_024675.4

p.T773A

c.2317A>G

1 paper

NM_024675.4

p.D772fs

c.2314_2315fs

1 paper

NM_024675.4

p.D772N

c.2314G>A

1 paper

NM_024675.4

p.T773insFs

c.2317dupA

1 paper

NM_024675.4

p.T773fs

c.2317_2318fs

1 paper

NM_024675.4

p.T773T

c.2319T>G

2 papers

NM_024675.4

p.T773T

c.2319T>C

1 paper

NM_024675.4

p.S771G

c.2311A>G

1 paper

NM_024675.4

p.S771ins3

c.2311_2312ins9

68 papers

NM_024675.4

p.Q775*

c.2323C>T

1 paper

NM_024675.4

p.Q775R

c.2324A>G

2 papers

NM_024675.4

p.Q775H

c.2325A>T