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.Q292H

c.876A>C

Surrounding Variants

1 paper

NM_024675.4

p.Q292H

c.876A>T

1 paper

NM_024675.4

p.Q292Q

c.876A>G

3 papers

NM_024675.4

p.G293S

c.877G>A

1 paper

NM_024675.4

p.Q292delFs

c.876delT

1 paper

NM_024675.4

p.Q292R

c.875A>G

1 paper

NM_024675.4

p.G293D

c.878G>A

2 papers

NM_024675.4

p.Q292*

c.874C>T

1 paper

NM_024675.4

p.Q292K

c.874C>A

1 paper

NM_024675.4

p.G293G

c.879C>G

1 paper

NM_024675.4

p.A291A

c.873A>G

2 papers

NM_024675.4

p.A291V

c.872C>T

1 paper

NM_024675.4

p.K294*

c.880A>T