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.N344T

c.1031A>C

Surrounding Variants

1 paper

NM_024675.4

p.Q343_N344delFs

c.1027_1030del4

1 paper

NM_024675.4

p.N344N

c.1032C>T

1 paper

NM_024675.4

p.N344fs

c.1030_1031fs

2 papers

NM_024675.4

p.N344delFs

c.1031delT

1 paper

NM_024675.4

p.N344D

c.1030A>G

1 paper

NM_024675.4

p.N342_Q343delFs

c.1024_1027del4

1 paper

NM_024675.4

p.L345V

c.1033T>G

3 papers

NM_024675.4

p.L345L

c.1033T>C

1 paper

NM_024675.4

p.L345fs

c.1033_1034fs

2 papers

NM_024675.4

p.N344_L345insFs

c.1032_1033dupCT

4 papers

NM_024675.4

p.L345*

c.1034T>G

2 papers

NM_024675.4

p.L345S

c.1034T>C