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.L698fs

c.2092_2093fs

Surrounding Variants

1 paper

NM_024675.4

p.L698P

c.2093T>C

1 paper

NM_024675.4

p.L698H

c.2093T>A

4 papers

NM_024675.4

p.L698delFs

c.2092delG

1 paper

NM_024675.4

p.G697G

c.2091C>T

2 papers

NM_024675.4

p.G697G

c.2091C>A

1 paper

NM_024675.4

p.G697_L698del2

c.2089_2093del6

1 paper

NM_024675.4

p.T696T

c.2088G>A

1 paper

NM_024675.4

p.S699C

c.2096C>G

1 paper

NM_024675.4

p.S699insFs

c.2095dupT

1 paper

NM_024675.4

p.S699Y

c.2096C>A

1 paper

NM_024675.4

p.L698delFs

c.2094delA

1 paper

NM_024675.4

p.S699fs

c.2095_2096fs