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.I76_C77Fs

c.228_229delinsAAAGTGFs

Surrounding Variants

1 paper

NM_024675.4

p.C77G

c.229T>G

6 papers

NM_024675.4

p.C77R

c.229T>C

1 paper

NM_024675.4

p.C77S

c.229T>A

1 paper

NM_024675.4

p.C77fs

c.229_230fs

1 paper

NM_024675.4

p.K75_I76delFs

c.224_227del4

1 paper

NM_024675.4

p.K75_I76delFs

c.223_227del5

1 paper

NM_024675.4

p.C77F

c.230G>T

1 paper

NM_024675.4

p.C77S

c.230G>C

1 paper

NM_024675.4

p.C77Y

c.230G>A

23 papers

NM_024675.4

p.C77delFs

c.229delA

4 papers

NM_024675.4

p.I76_C77delFs

c.228_229delAT

1 paper

NM_024675.4

p.I76I

c.228A>T