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.D255D

c.765T>C

Surrounding Variants

1 paper

NM_024675.4

p.D255fs

c.763_764fs

1 paper

NM_024675.4

p.D255E

c.765T>A

3 papers

NM_024675.4

p.S256G

c.766A>G

3 papers

NM_024675.4

p.D255G

c.764A>G

1 paper

NM_024675.4

p.S256R

c.766A>C

2 papers

NM_024675.4

p.D255H

c.763G>C

1 paper

NM_024675.4

p.S256T

c.767G>C

2 papers

NM_024675.4

p.S256N

c.767G>A

1 paper

NM_024675.4

p.D255_S256del1

c.764_766delTAT

1 paper

NM_024675.4

p.T252_S254del3

c.754_761del9

6 papers

NM_024675.4

p.S256S

c.768C>T

1 paper

NM_024675.4

p.S256R

c.768C>G