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.N366_E367del1

c.1098_1100delTCA

Surrounding Variants

1 paper

NM_024675.4

p.E367D

c.1101A>T

1 paper

NM_024675.4

p.E367D

c.1101A>C

1 paper

NM_024675.4

p.N368fs

c.1102_1103fs

1 paper

NM_024675.4

p.N368Y

c.1102A>T

2 papers

NM_024675.4

p.E367G

c.1100A>G

3 papers

NM_024675.4

p.E367K

c.1099G>A

1 paper

NM_024675.4

p.R365_N366del2

c.1093_1097del6

2 papers

NM_024675.4

p.N368S

c.1103A>G

1 paper

NM_024675.4

p.N366fs

c.1096_1097fs

1 paper

NM_024675.4

p.N368K

c.1104T>G

1 paper

NM_024675.4

p.N368K

c.1104T>A

2 papers

NM_024675.4

p.N368delFs

c.1103delT