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.C802Y

c.2405G>A

Surrounding Variants

2 papers

NM_024675.4

p.C802fs

c.2404_2405fs

2 papers

NM_024675.4

p.C802*

c.2406T>A

1 paper

NM_024675.4

p.C802delFs

c.2405delC

1 paper

NM_024675.4

p.D801delFs

c.2401_2402delTC

4 papers

NM_024675.4

p.C802_D803delFs

c.2406_2407delCA

1 paper

NM_024675.4

p.D801H

c.2401G>C

2 papers

NM_024675.4

p.D801N

c.2401G>A

7 papers

NM_024675.4

p.S804fs

c.2410_2411fs

1 paper

NM_024675.4

p.S804F

c.2411C>T

1 paper

NM_024675.4

p.C802_D803del2

c.2404_2408del6

4 papers

NM_024675.4

p.S804fs

c.2410_2411fs

1 paper

NM_024675.4

p.S804S

c.2412T>C