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.Q420R

c.1259A>G

Surrounding Variants

1 paper

NM_024675.4

p.Q420H

c.1260G>T

1 paper

NM_024675.4

p.Q420H

c.1260G>C

4 papers

NM_024675.4

p.Q420*

c.1258C>T

1 paper

NM_024675.4

p.Q420E

c.1258C>G

1 paper

NM_024675.4

p.C419C

c.1257C>T

1 paper

NM_024675.4

p.C419*

c.1257C>A

1 paper

NM_024675.4

p.R421G

c.1261A>G

2 papers

NM_024675.4

p.C419F

c.1256G>T

1 paper

NM_024675.4

p.R421T

c.1262G>C

1 paper

NM_024675.4

p.C419G

c.1255T>G

2 papers

NM_024675.4

p.C419R

c.1255T>C

1 paper

NM_024675.4

p.R421R

c.1263G>A