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

4 papers

NM_024675.4

p.A406V

c.1217C>T

Surrounding Variants

1 paper

NM_024675.4

p.A406E

c.1217C>A

1 paper

NM_024675.4

p.A406delFs

c.1216delC

1 paper

NM_024675.4

p.A406A

c.1218A>C

1 paper

NM_024675.4

p.P405P

c.1215T>G

1 paper

NM_024675.4

p.E392_P405delFs

c.1175_1214del40

1 paper

NM_024675.4

p.A406delFs

c.1218delT

1 paper

NM_024675.4

p.E407fs

c.1219_1220fs

3 papers

NM_024675.4

p.P405L

c.1214C>T

3 papers

NM_024675.4

p.P405R

c.1214C>G

1 paper

NM_024675.4

p.F404_P405delFs

c.1212_1213delGA

2 papers

NM_024675.4

p.E407G

c.1220A>G

1 paper

NM_024675.4

p.E407A

c.1220A>C