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.Q1023E

c.3067C>G

Surrounding Variants

2 papers

NM_024675.4

p.Q1023*

c.3067C>T

1 paper

NM_024675.4

p.Q1023R

c.3068A>G

1 paper

NM_024675.4

p.Q1023Q

c.3069A>G

1 paper

NM_024675.4

p.M1022fs

c.3064_3065fs

3 papers

NM_024675.4

p.M1022L

c.3064A>T

3 papers

NM_024675.4

p.M1022L

c.3064A>C

1 paper

NM_024675.4

p.G1021insFs

c.3062_3063dupGG

1 paper

NM_024675.4

p.E1024fs

c.3070_3071fs

2 papers

NM_024675.4

p.G1021G

c.3063G>T

1 paper

NM_024675.4

p.G1021G

c.3063G>A

1 paper

NM_024675.4

p.E1024G

c.3071A>G

2 papers

NM_024675.4

p.E1024delFs

c.3070delC