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.E71Splc

c.211+10G>A

Surrounding Variants

1 paper

NM_024675.4

p.E71Splc

c.211+10G>T

1 paper

NM_024675.4

p.E71Splc

c.211+9A>G

1 paper

NM_024675.4

p.E71Splc

c.211+7C>A

1 paper

NM_024675.4

p.E71Splc

c.211+6T>A

1 paper

NM_024675.4

p.E71Splc

c.211+14A>G

3 papers

NM_024675.4

p.E71Splc

c.211+4A>G

1 paper

NM_024675.4

p.E71Splc

c.211+17C>T

4 papers

NM_024675.4

p.E71Splc

c.211+2T>C

3 papers

NM_024675.4

p.E71Splc

c.211+1G>T

8 papers

NM_024675.4

p.E71Splc

c.211+1G>A

1 paper

NM_024675.4

p.E71Splc

c.211+19C>T

1 paper

NM_024675.4

p.E71Q

c.211G>C