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.N366D

c.1096A>G

Surrounding Variants

1 paper

NM_024675.4

p.S359_N366Fs

c.1076_1096delinsTGTAAGGFs

2 papers

NM_024675.4

p.R365S

c.1095G>T

1 paper

NM_024675.4

p.R365S

c.1095G>C

1 paper

NM_024675.4

p.R365R

c.1095G>A

2 papers

NM_024675.4

p.N366S

c.1097A>G

2 papers

NM_024675.4

p.S359_R365del0

c.1075_1095del21

1 paper

NM_024675.4

p.N366fs

c.1096_1097fs

4 papers

NM_024675.4

p.R365K

c.1094G>A

3 papers

NM_024675.4

p.E367K

c.1099G>A

1 paper

NM_024675.4

p.R365_N366del2

c.1093_1097del6

3 papers

NM_024675.4

p.R365G

c.1093A>G

1 paper

NM_024675.4

p.R365R

c.1093A>C