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.C327G

c.979T>G

Surrounding Variants

1 paper

NM_024675.4

p.C327_S328ins5

c.979_983ins15

2 papers

NM_024675.4

p.C327R

c.979T>C

3 papers

NM_024675.4

p.C327Y

c.980G>A

1 paper

NM_024675.4

p.C327W

c.981T>G

3 papers

NM_024675.4

p.S326L

c.977C>T

1 paper

NM_024675.4

p.S326*

c.977C>G

1 paper

NM_024675.4

p.S326insFs

c.976dupT

1 paper

NM_024675.4

p.S326P

c.976T>C

1 paper

NM_024675.4

p.S326fs

c.976_977fs

1 paper

NM_024675.4

p.I325M

c.975T>G

1 paper

NM_024675.4

p.S328F

c.983C>T

2 papers

NM_024675.4

p.S328C

c.983C>G