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.Q740fs

c.2218_2219fs

Surrounding Variants

9 papers

NM_024675.4

p.Q740*

c.2218C>T

1 paper

NM_024675.4

p.P739_Q740insFs

c.2217_2218insG

1 paper

NM_024675.4

p.P739P

c.2217T>C

2 papers

NM_024675.4

p.P739L

c.2216C>T

1 paper

NM_024675.4

p.P739H

c.2216C>A

1 paper

NM_024675.4

p.Q740H

c.2220A>T

1 paper

NM_024675.4

p.Q740Q

c.2220A>G

1 paper

NM_024675.4

p.Q740H

c.2220A>C

2 papers

NM_024675.4

p.G741S

c.2221G>A

1 paper

NM_024675.4

p.Q740delFs

c.2220delT

1 paper

NM_024675.4

p.Q740delFs

c.2219_2220delTT

1 paper

NM_024675.4

p.P739insFs

c.2215_2216insG