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

3 papers

NM_024675.4

p.Q1020Q

c.3060A>G

Surrounding Variants

5 papers

NM_024675.4

p.G1021R

c.3061G>C

5 papers

NM_024675.4

p.G1021R

c.3061G>A

4 papers

NM_024675.4

p.Q1020R

c.3059A>G

4 papers

NM_024675.4

p.G1021E

c.3062G>A

2 papers

NM_024675.4

p.Q1020*

c.3058C>T

2 papers

NM_024675.4

p.G1021G

c.3063G>T

1 paper

NM_024675.4

p.G1021G

c.3063G>A

2 papers

NM_024675.4

p.V1019V

c.3057C>T

1 paper

NM_024675.4

p.V1019V

c.3057C>A

5 papers

NM_024675.4

p.V1019A

c.3056T>C

1 paper

NM_024675.4

p.M1022fs

c.3064_3065fs

3 papers

NM_024675.4

p.M1022L

c.3064A>T