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

2 papers

NM_024675.4

p.P72R

c.215C>G

Surrounding Variants

2 papers

NM_024675.4

p.P72L

c.215C>T

1 paper

NM_024675.4

p.P72H

c.215C>A

1 paper

NM_024675.4

p.P72fs

c.214_215fs

2 papers

NM_024675.4

p.P72S

c.214C>T

1 paper

NM_024675.4

p.P72A

c.214C>G

2 papers

NM_024675.4

p.P72T

c.214C>A

2 papers

NM_024675.4

p.E71D

c.213A>T

1 paper

NM_024675.4

p.K73E

c.217A>G

2 papers

NM_024675.4

p.E71D

c.213A>C

1 paper

NM_024675.4

p.K73Q

c.217A>C

1 paper

NM_024675.4

p.E71_P72insFs

c.213_214insT

1 paper

NM_024675.4

p.P72delFs

c.216delA