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.N217delFs

c.650delT

Surrounding Variants

1 paper

NM_024675.4

p.N217fs

c.649_650fs

1 paper

NM_024675.4

p.N217N

c.651T>C

1 paper

NM_024675.4

p.E218*

c.652G>T

1 paper

NM_024675.4

p.E218K

c.652G>A

2 papers

NM_024675.4

p.N217S

c.650A>G

1 paper

NM_024675.4

p.N217fs

c.649_650fs

2 papers

NM_024675.4

p.E218V

c.653A>T

1 paper

NM_024675.4

p.N217Y

c.649A>T

2 papers

NM_024675.4

p.E218G

c.653A>G

1 paper

NM_024675.4

p.N217D

c.649A>G

1 paper

NM_024675.4

p.I216M

c.648T>G

1 paper

NM_024675.4

p.I216I

c.648T>A