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

4 papers

NM_024675.4

p.I76fs

c.226_227fs

Surrounding Variants

1 paper

NM_024675.4

p.I76I

c.228A>T

1 paper

NM_024675.4

p.I76M

c.228A>G

1 paper

NM_024675.4

p.I76delFs

c.227delA

3 papers

NM_024675.4

p.K75insFs

c.224dupA

1 paper

NM_024675.4

p.C77G

c.229T>G

1 paper

NM_024675.4

p.I76R

c.227T>G

1 paper

NM_024675.4

p.I76_C77Fs

c.228_229delinsAAAGTGFs

6 papers

NM_024675.4

p.C77R

c.229T>C

2 papers

NM_024675.4

p.I76T

c.227T>C

1 paper

NM_024675.4

p.C77S

c.229T>A

1 paper

NM_024675.4

p.I76K

c.227T>A

1 paper

NM_024675.4

p.C77fs

c.229_230fs