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.L624L

c.1872T>C

Surrounding Variants

2 papers

NM_024675.4

p.E625Q

c.1873G>C

1 paper

NM_024675.4

p.L624F

c.1870C>T

1 paper

NM_024675.4

p.E625delFs

c.1873delC

1 paper

NM_024675.4

p.K623K

c.1869G>A

1 paper

NM_024675.4

p.E625E

c.1875A>G

1 paper

NM_024675.4

p.E625fs

c.1873_1874fs

1 paper

NM_024675.4

p.K626*

c.1876A>T

2 papers

NM_024675.4

p.K626E

c.1876A>G

1 paper

NM_024675.4

p.K623*

c.1867A>T

1 paper

NM_024675.4

p.K623Q

c.1867A>C

1 paper

NM_024675.4

p.K626K

c.1878A>G

3 papers

NM_024675.4

p.L622P

c.1865T>C