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.E178D

c.534A>C

Surrounding Variants

2 papers

NM_024675.4

p.E178D

c.534A>T

1 paper

NM_024675.4

p.E178E

c.534A>G

4 papers

NM_024675.4

p.Q179*

c.535C>T

3 papers

NM_024675.4

p.Q179E

c.535C>G

1 paper

NM_024675.4

p.Q179K

c.535C>A

1 paper

NM_024675.4

p.E178V

c.533A>T

1 paper

NM_024675.4

p.E178G

c.533A>G

1 paper

NM_024675.4

p.E178A

c.533A>C

3 papers

NM_024675.4

p.E178delFs

c.532delC

1 paper

NM_024675.4

p.E178Q

c.532G>C

2 papers

NM_024675.4

p.E178K

c.532G>A

1 paper

NM_024675.4

p.Q179L

c.536A>T