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.T51fs

c.151_152fs

Surrounding Variants

1 paper

NM_024675.4

p.T51S

c.151A>T

1 paper

NM_024675.4

p.T51A

c.151A>G

1 paper

NM_024675.4

p.T51P

c.151A>C

1 paper

NM_024675.4

p.S47_K50del4

c.139_149del12

4 papers

NM_024675.4

p.T51I

c.152C>T

1 paper

NM_024675.4

p.T51R

c.152C>G

1 paper

NM_024675.4

p.T51K

c.152C>A

1 paper

NM_024675.4

p.K49_K50del2

c.145_149del6

3 papers

NM_024675.4

p.K50N

c.150A>T

2 papers

NM_024675.4

p.K50N

c.150A>C

1 paper

NM_024675.4

p.K50_T51insFs

c.150_151insT

1 paper

NM_024675.4

p.T51T

c.153A>T