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.G110fs

c.328_329fs

Surrounding Variants

1 paper

NM_024675.4

p.G110R

c.328G>C

1 paper

NM_024675.4

p.G110R

c.328G>A

1 paper

NM_024675.4

p.N108_P109del2

c.322_326del6

2 papers

NM_024675.4

p.P109delFs

c.326delG

1 paper

NM_024675.4

p.G110V

c.329G>T

1 paper

NM_024675.4

p.P109_G110insFs

c.327_328ins5

1 paper

NM_024675.4

p.G110A

c.329G>C

2 papers

NM_024675.4

p.G110E

c.329G>A

1 paper

NM_024675.4

p.P109L

c.326C>T

1 paper

NM_024675.4

p.P109R

c.326C>G

1 paper

NM_024675.4

p.P109H

c.326C>A

2 papers

NM_024675.4

p.G110G

c.330A>G