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

6 papers

NM_024675.4

p.P621T

c.1861C>A

Surrounding Variants

1 paper

NM_024675.4

p.P621P

c.1863T>C

1 paper

NM_024675.4

p.G620E

c.1859G>A

5 papers

NM_024675.4

p.F619delFs

c.1857delA

3 papers

NM_024675.4

p.L622P

c.1865T>C

1 paper

NM_024675.4

p.F619F

c.1857T>C

3 papers

NM_024675.4

p.F619fs

c.1855_1856fs

1 paper

NM_024675.4

p.D618del1

c.1852_1854delGTC

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.K623K

c.1869G>A

1 paper

NM_024675.4

p.D618V

c.1853A>T

1 paper

NM_024675.4

p.D618G

c.1853A>G