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.I281fs

c.841_842fs

Surrounding Variants

1 paper

NM_024675.4

p.I281I

c.843T>C

1 paper

NM_024675.4

p.I281I

c.843T>A

1 paper

NM_024675.4

p.I281S

c.842T>G

1 paper

NM_024675.4

p.I281delFs

c.841delT

6 papers

NM_024675.4

p.R282G

c.844A>G

1 paper

NM_024675.4

p.I281Fs

c.842_843delinsTFs

1 paper

NM_024675.4

p.R282I

c.845G>T

3 papers

NM_024675.4

p.R282K

c.845G>A

1 paper

NM_024675.4

p.I281F

c.841A>T

2 papers

NM_024675.4

p.I281V

c.841A>G

1 paper

NM_024675.4

p.N280delFs

c.840delG

1 paper

NM_024675.4

p.N280N

c.840C>T