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.K517R

c.1550A>G

Surrounding Variants

1 paper

NM_024675.4

p.K517K

c.1551A>G

1 paper

NM_024675.4

p.K517fs

c.1549_1550fs

1 paper

NM_024675.4

p.S518P

c.1552T>C

1 paper

NM_024675.4

p.K517delFs

c.1551delT

1 paper

NM_024675.4

p.G514_K517del4

c.1540_1550del12

2 papers

NM_024675.4

p.R516fs

c.1546_1547fs

1 paper

NM_024675.4

p.R516delFs

c.1547delC

1 paper

NM_024675.4

p.S518fs

c.1552_1553fs

1 paper

NM_024675.4

p.R516I

c.1547G>T

6 papers

NM_024675.4

p.R516delFs

c.1546delT

1 paper

NM_024675.4

p.S518L

c.1553C>T

5 papers

NM_024675.4

p.S518*

c.1553C>G