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

2 papers

NM_024675.4

p.K561R

c.1682A>G

Surrounding Variants

1 paper

NM_024675.4

p.Q552_K561del0

c.1656_1682del27

1 paper

NM_024675.4

p.G562W

c.1684G>T

1 paper

NM_024675.4

p.G562R

c.1684G>C

1 paper

NM_024675.4

p.V560V

c.1680G>C

1 paper

NM_024675.4

p.G562R

c.1684G>A

1 paper

NM_024675.4

p.L556_K561del0

c.1666_1683del18

2 papers

NM_024675.4

p.V560G

c.1679T>G

6 papers

NM_024675.4

p.G562Splc

c.1684+1G>T

8 papers

NM_024675.4

p.G562Splc

c.1684+1G>A

1 paper

NM_024675.4

p.G562Splc

c.1684+2T>C

3 papers

NM_024675.4

p.Q559delFs

c.1677delT

1 paper

NM_024675.4

p.Q559fs

c.1675_1676fs