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.V487V

c.1461C>A

Surrounding Variants

1 paper

NM_024675.4

p.V487V

c.1461C>T

1 paper

NM_024675.4

p.V487G

c.1460T>G

1 paper

NM_024675.4

p.V487D

c.1460T>A

2 papers

NM_024675.4

p.S488G

c.1462A>G

1 paper

NM_024675.4

p.S488I

c.1463G>T

1 paper

NM_024675.4

p.S488T

c.1463G>C

2 papers

NM_024675.4

p.V487I

c.1459G>A

1 paper

NM_024675.4

p.K486N

c.1458A>T

1 paper

NM_024675.4

p.K486N

c.1458A>C

2 papers

NM_024675.4

p.T485_K486delFs

c.1454_1457del4

7 papers

NM_024675.4

p.V487_S488del2

c.1459_1463del6

3 papers

NM_024675.4

p.K486I

c.1457A>T