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.L304F

c.910C>T

Surrounding Variants

1 paper

NM_024675.4

p.D301_L303del3

c.901_908del9

1 paper

NM_024675.4

p.L304insFs

c.911_912insA

1 paper

NM_024675.4

p.L304R

c.911T>G

2 papers

NM_024675.4

p.L304P

c.911T>C

2 papers

NM_024675.4

p.L303L

c.909C>T

1 paper

NM_024675.4

p.L304fs

c.910_911fs

4 papers

NM_024675.4

p.L303P

c.908T>C

1 paper

NM_024675.4

p.L303H

c.908T>A

4 papers

NM_024675.4

p.L303_L304del1

c.909_911delAGG

2 papers

NM_024675.4

p.D301_L303delFs

c.901_907del7

1 paper

NM_024675.4

p.V305I

c.913G>A

2 papers

NM_024675.4

p.L304delFs

c.912delA