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

3 papers

NM_024675.4

p.E215K

c.643G>A

Surrounding Variants

5 papers

NM_024675.4

p.E215*

c.643G>T

1 paper

NM_024675.4

p.E215G

c.644A>G

1 paper

NM_024675.4

p.T214T

c.642A>G

2 papers

NM_024675.4

p.T214K

c.641C>A

2 papers

NM_024675.4

p.T214P

c.640A>C

1 paper

NM_024675.4

p.I216L

c.646A>C

1 paper

NM_024675.4

p.T214insFs

c.640_641insT

1 paper

NM_024675.4

p.V213delFs

c.639delA

1 paper

NM_024675.4

p.E215del1

c.643_644delTTC

1 paper

NM_024675.4

p.I216T

c.647T>C

1 paper

NM_024675.4

p.I216delFs

c.646delT

1 paper

NM_024675.4

p.I216M

c.648T>G