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.D301N

c.901G>A

Surrounding Variants

1 paper

NM_024675.4

p.D301fs

c.901_902fs

1 paper

NM_024675.4

p.D301H

c.901G>C

1 paper

NM_024675.4

p.D301V

c.902A>T

3 papers

NM_024675.4

p.D301G

c.902A>G

1 paper

NM_024675.4

p.T300T

c.900A>G

1 paper

NM_024675.4

p.D301delins

c.901_902delinsAT

2 papers

NM_024675.4

p.T300delFs

c.899delG

1 paper

NM_024675.4

p.D301fs

c.901_902fs

1 paper

NM_024675.4

p.D301insFs

c.902dupA

1 paper

NM_024675.4

p.D301D

c.903T>C

4 papers

NM_024675.4

p.D301delFs

c.902delT

9 papers

NM_024675.4

p.T300I

c.899C>T