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.G93G

c.279A>T

Surrounding Variants

1 paper

NM_024675.4

p.T86_G93del0

c.258_278del21

1 paper

NM_024675.4

p.G93V

c.278G>T

1 paper

NM_024675.4

p.T92_G93insFs

c.276_279dup4

1 paper

NM_024675.4

p.E94Q

c.280G>C

1 paper

NM_024675.4

p.G93A

c.278G>C

2 papers

NM_024675.4

p.E94K

c.280G>A

2 papers

NM_024675.4

p.G93E

c.278G>A

1 paper

NM_024675.4

p.E94fs

c.280_281fs

2 papers

NM_024675.4

p.G93R

c.277G>C

2 papers

NM_024675.4

p.G93R

c.277G>A

1 paper

NM_024675.4

p.E94V

c.281A>T

2 papers

NM_024675.4

p.E94G

c.281A>G