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.K294K

c.882A>G

Surrounding Variants

1 paper

NM_024675.4

p.K294*

c.880A>T

4 papers

NM_024675.4

p.K294E

c.880A>G

1 paper

NM_024675.4

p.G293delFs

c.879delG

1 paper

NM_024675.4

p.G293G

c.879C>G

1 paper

NM_024675.4

p.K295K

c.885A>G

1 paper

NM_024675.4

p.G293D

c.878G>A

4 papers

NM_024675.4

p.M296fs

c.886_887fs

1 paper

NM_024675.4

p.M296L

c.886A>T

1 paper

NM_024675.4

p.M296L

c.886A>C

11 papers

NM_024675.4

p.M296insFs

c.886dupA

1 paper

NM_024675.4

p.M296R

c.887T>G

1 paper

NM_024675.4

p.M296K

c.887T>A