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

4 papers

NM_024675.4

p.C933Y

c.2798G>A

Surrounding Variants

1 paper

NM_024675.4

p.C933F

c.2798G>T

2 papers

NM_024675.4

p.C933S

c.2798G>C

2 papers

NM_024675.4

p.C933G

c.2797T>G

1 paper

NM_024675.4

p.C933W

c.2799T>G

1 paper

NM_024675.4

p.C933C

c.2799T>C

1 paper

NM_024675.4

p.C933R

c.2797T>C

1 paper

NM_024675.4

p.C933S

c.2797T>A

1 paper

NM_024675.4

p.C933fs

c.2797_2798fs

1 paper

NM_024675.4

p.V934L

c.2800G>T

1 paper

NM_024675.4

p.V932fs

c.2794_2795fs

1 paper

NM_024675.4

p.V934L

c.2800G>C

2 papers

NM_024675.4

p.V934I

c.2800G>A