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.N320H

c.958A>C

Surrounding Variants

1 paper

NM_024675.4

p.S319S

c.957T>C

2 papers

NM_024675.4

p.S319F

c.956C>T

8 papers

NM_024675.4

p.S319Y

c.956C>A

1 paper

NM_024675.4

p.L321V

c.961T>G

1 paper

NM_024675.4

p.L321L

c.961T>C

1 paper

NM_024675.4

p.S319P

c.955T>C

1 paper

NM_024675.4

p.T317_N320del4

c.949_959del12

1 paper

NM_024675.4

p.P316_N320del5

c.946_959del15

1 paper

NM_024675.4

p.L321*

c.962T>G

1 paper

NM_024675.4

p.S318R

c.954T>G

1 paper

NM_024675.4

p.L321S

c.962T>C

1 paper

NM_024675.4

p.S318S

c.954T>C