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.D618V

c.1853A>T

Surrounding Variants

1 paper

NM_024675.4

p.D618G

c.1853A>G

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.F619F

c.1857T>C

2 papers

NM_024675.4

p.E617K

c.1849G>A

1 paper

NM_024675.4

p.D616fs

c.1846_1847fs

1 paper

NM_024675.4

p.D616D

c.1848T>C

5 papers

NM_024675.4

p.F619delFs

c.1857delA

1 paper

NM_024675.4

p.G620E

c.1859G>A

2 papers

NM_024675.4

p.D616G

c.1847A>G

8 papers

NM_024675.4

p.D616H

c.1846G>C

1 paper

NM_024675.4

p.P615delFs

c.1845delA