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.Q228delFs

c.682delG

Surrounding Variants

1 paper

NM_024675.4

p.A227insFs

c.681dupC

1 paper

NM_024675.4

p.P224_A227del4

c.670_680del12

3 papers

NM_024675.4

p.Q228*

c.682C>T

1 paper

NM_024675.4

p.I223_A227del5

c.667_680del15

1 paper

NM_024675.4

p.Q228Q

c.684A>G

1 paper

NM_024675.4

p.Q228fs

c.682_683fs

1 paper

NM_024675.4

p.P229S

c.685C>T

1 paper

NM_024675.4

p.A227A

c.681C>G

1 paper

NM_024675.4

p.Q228delFs

c.684delT

1 paper

NM_024675.4

p.P229L

c.686C>T

1 paper

NM_024675.4

p.P229R

c.686C>G

1 paper

NM_024675.4

p.A227G

c.680C>G