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.K515K

c.1545A>G

Surrounding Variants

1 paper

NM_024675.4

p.K515N

c.1545A>T

1 paper

NM_024675.4

p.K515N

c.1545A>C

20 papers

NM_024675.4

p.K515R

c.1544A>G

3 papers

NM_024675.4

p.R516fs

c.1546_1547fs

1 paper

NM_024675.4

p.R516I

c.1547G>T

6 papers

NM_024675.4

p.R516delFs

c.1546delT

4 papers

NM_024675.4

p.K515*

c.1543A>T

1 paper

NM_024675.4

p.K515Q

c.1543A>C

1 paper

NM_024675.4

p.G514G

c.1542A>G

2 papers

NM_024675.4

p.R516fs

c.1546_1547fs

1 paper

NM_024675.4

p.G514fs

c.1540_1541fs

1 paper

NM_024675.4

p.R516delFs

c.1547delC