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.P782P

c.2346A>C

Surrounding Variants

2 papers

NM_024675.4

p.P782L

c.2345C>T

1 paper

NM_024675.4

p.P782R

c.2345C>G

3 papers

NM_024675.4

p.P782Q

c.2345C>A

2 papers

NM_024675.4

p.P782S

c.2344C>T

1 paper

NM_024675.4

p.S781R

c.2343C>G

1 paper

NM_024675.4

p.S781R

c.2343C>A

1 paper

NM_024675.4

p.S781delFs

c.2342delC

1 paper

NM_024675.4

p.A783A

c.2349A>G

1 paper

NM_024675.4

p.S781I

c.2342G>T

2 papers

NM_024675.4

p.S781N

c.2342G>A

1 paper

NM_024675.4

p.K784*

c.2350A>T

1 paper

NM_024675.4

p.K784fs

c.2350_2351fs