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.F655F

c.1965T>C

Surrounding Variants

1 paper

NM_024675.4

p.F655S

c.1964T>C

5 papers

NM_024675.4

p.F655insFs

c.1965dupT

1 paper

NM_024675.4

p.F655delFs

c.1965delA

3 papers

NM_024675.4

p.P656fs

c.1966_1967fs

1 paper

NM_024675.4

p.P656L

c.1967C>T

1 paper

NM_024675.4

p.K649_P656insFs

c.1947_1966dup20

1 paper

NM_024675.4

p.I654I

c.1962T>C

1 paper

NM_024675.4

p.P656P

c.1968A>T

2 papers

NM_024675.4

p.P656P

c.1968A>G

1 paper

NM_024675.4

p.P656fs

c.1966_1967fs

3 papers

NM_024675.4

p.E657*

c.1969G>T

1 paper

NM_024675.4

p.E657K

c.1969G>A