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.G467fs

c.1399_1400fs

Surrounding Variants

1 paper

NM_024675.4

p.G467delFs

c.1400delC

1 paper

NM_024675.4

p.S466_G467insFs

c.1396_1399dup4

2 papers

NM_024675.4

p.G467A

c.1400G>C

2 papers

NM_024675.4

p.G467D

c.1400G>A

1 paper

NM_024675.4

p.T468A

c.1402A>G

1 paper

NM_024675.4

p.G467R

c.1399G>C

2 papers

NM_024675.4

p.G467S

c.1399G>A

1 paper

NM_024675.4

p.T468I

c.1403C>T

1 paper

NM_024675.4

p.S466S

c.1398T>G

1 paper

NM_024675.4

p.T468T

c.1404A>G

1 paper

NM_024675.4

p.C469R

c.1405T>C

1 paper

NM_024675.4

p.T468delFs

c.1402_1403delGT