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.C800_P806insFs

c.2398_2417dup20

Surrounding Variants

1 paper

NM_024675.4

p.P806P

c.2418G>T

3 papers

NM_024675.4

p.P806P

c.2418G>A

9 papers

NM_024675.4

p.P806L

c.2417C>T

2 papers

NM_024675.4

p.P807S

c.2419C>T

1 paper

NM_024675.4

p.P806R

c.2417C>G

1 paper

NM_024675.4

p.V805V

c.2415C>T

2 papers

NM_024675.4

p.G808*

c.2422G>T

1 paper

NM_024675.4

p.G808E

c.2423G>A

8 papers

NM_024675.4

p.S804delFs

c.2411_2412delAG

1 paper

NM_024675.4

p.S804del1

c.2410_2412delAGA

4 papers

NM_024675.4

p.S804fs

c.2410_2411fs

1 paper

NM_024675.4

p.S804S

c.2412T>C