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.E1018A

c.3053A>C

Surrounding Variants

1 paper

NM_024675.4

p.E1018G

c.3053A>G

1 paper

NM_024675.4

p.E1018delFs

c.3052delC

51 papers

NM_024675.4

p.E1018D

c.3054G>T

55 papers

NM_024675.4

p.E1018D

c.3054G>C

1 paper

NM_024675.4

p.E1018E

c.3054G>A

1 paper

NM_024675.4

p.E1018K

c.3052G>A

1 paper

NM_024675.4

p.V1019F

c.3055G>T

5 papers

NM_024675.4

p.V1019A

c.3056T>C

1 paper

NM_024675.4

p.A1017fs

c.3049_3050fs

1 paper

NM_024675.4

p.A1017S

c.3049G>T

1 paper

NM_024675.4

p.A1017P

c.3049G>C

3 papers

NM_024675.4

p.A1017T

c.3049G>A