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.D161E

c.483C>G

Surrounding Variants

1 paper

NM_024675.4

p.D161D

c.483C>T

2 papers

NM_024675.4

p.D161fs

c.481_482fs

1 paper

NM_024675.4

p.D161insFs

c.481_482dupGA

2 papers

NM_024675.4

p.D161E

c.483C>A

1 paper

NM_024675.4

p.C162G

c.484T>G

1 paper

NM_024675.4

p.C162R

c.484T>C

1 paper

NM_024675.4

p.C162S

c.484T>A

1 paper

NM_024675.4

p.D161V

c.482A>T

1 paper

NM_024675.4

p.D161G

c.482A>G

1 paper

NM_024675.4

p.D161A

c.482A>C

1 paper

NM_024675.4

p.C162F

c.485G>T

1 paper

NM_024675.4

p.D161Y

c.481G>T