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.V969L

c.2905G>T

Surrounding Variants

1 paper

NM_024675.4

p.V969L

c.2905G>C

4 papers

NM_024675.4

p.V969M

c.2905G>A

1 paper

NM_024675.4

p.V969G

c.2906T>G

1 paper

NM_024675.4

p.A968A

c.2904T>G

2 papers

NM_024675.4

p.V969A

c.2906T>C

1 paper

NM_024675.4

p.A968A

c.2904T>C

1 paper

NM_024675.4

p.V969E

c.2906T>A

1 paper

NM_024675.4

p.K967_A968delFs

c.2900_2903del4

1 paper

NM_024675.4

p.V969V

c.2907G>A

4 papers

NM_024675.4

p.A968V

c.2903C>T

6 papers

NM_024675.4

p.A968G

c.2903C>G

1 paper

NM_024675.4

p.A968D

c.2903C>A