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.I309insFs

c.926dupT

Surrounding Variants

1 paper

NM_024675.4

p.I309M

c.927A>G

1 paper

NM_024675.4

p.I309I

c.927A>C

1 paper

NM_024675.4

p.I309insFs

c.925dupA

1 paper

NM_024675.4

p.I309R

c.926T>G

1 paper

NM_024675.4

p.I309T

c.926T>C

1 paper

NM_024675.4

p.I309K

c.926T>A

4 papers

NM_024675.4

p.S310G

c.928A>G

1 paper

NM_024675.4

p.I309delFs

c.926_927delTA

2 papers

NM_024675.4

p.S310N

c.929G>A

2 papers

NM_024675.4

p.I309delFs

c.927delT

35 papers

NM_024675.4

p.I309V

c.925A>G

1 paper

NM_024675.4

p.I309fs

c.925_926fs