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.V102I

c.304G>A

Surrounding Variants

1 paper

NM_024675.4

p.V102fs

c.304_305fs

2 papers

NM_024675.4

p.V102F

c.304G>T

1 paper

NM_024675.4

p.V102L

c.304G>C

2 papers

NM_024675.4

p.D101fs

c.301_302fs

2 papers

NM_024675.4

p.D101E

c.303T>G

1 paper

NM_024675.4

p.V102G

c.305T>G

2 papers

NM_024675.4

p.V102A

c.305T>C

1 paper

NM_024675.4

p.D101D

c.303T>C

1 paper

NM_024675.4

p.V102D

c.305T>A

1 paper

NM_024675.4

p.D101E

c.303T>A

1 paper

NM_024675.4

p.V102delFs

c.304delC

1 paper

NM_024675.4

p.D101del1

c.301_303delATC