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

6 papers

NM_024675.4

p.K745delFs

c.2235delT

Surrounding Variants

2 papers

NM_024675.4

p.A746fs

c.2236_2237fs

1 paper

NM_024675.4

p.K745K

c.2235A>G

6 papers

NM_024675.4

p.K745R

c.2234A>G

1 paper

NM_024675.4

p.A746A

c.2238A>G

2 papers

NM_024675.4

p.A746fs

c.2236_2237fs

1 paper

NM_024675.4

p.S747A

c.2239T>G

1 paper

NM_024675.4

p.S747P

c.2239T>C

3 papers

NM_024675.4

p.K745E

c.2233A>G

1 paper

NM_024675.4

p.E744E

c.2232A>G

1 paper

NM_024675.4

p.E744insFs

c.2230dupG

1 paper

NM_024675.4

p.Y743insFs

c.2229dupT

3 papers

NM_024675.4

p.E744K

c.2230G>A