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.F164L

c.490T>C

Surrounding Variants

1 paper

NM_024675.4

p.F164V

c.490T>G

1 paper

NM_024675.4

p.F164I

c.490T>A

2 papers

NM_024675.4

p.F164C

c.491T>G

2 papers

NM_024675.4

p.F164S

c.491T>C

1 paper

NM_024675.4

p.F164Y

c.491T>A

1 paper

NM_024675.4

p.V163V

c.489C>G

1 paper

NM_024675.4

p.V163fs

c.487_488fs

9 papers

NM_024675.4

p.V163delFs

c.487_488delAC

1 paper

NM_024675.4

p.F164L

c.492T>G

1 paper

NM_024675.4

p.V163G

c.488T>G

1 paper

NM_024675.4

p.V163A

c.488T>C

1 paper

NM_024675.4

p.F164L

c.492T>A