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

5 papers

NM_024675.4

p.S254*

c.761C>G

Surrounding Variants

2 papers

NM_024675.4

p.S254L

c.761C>T

1 paper

NM_024675.4

p.S254insFs

c.760dupT

5 papers

NM_024675.4

p.S254*

c.761C>A

2 papers

NM_024675.4

p.S254P

c.760T>C

2 papers

NM_024675.4

p.L253delFs

c.759delT

12 papers

NM_024675.4

p.S254fs

c.760_761fs

1 paper

NM_024675.4

p.S254delFs

c.761delG

17 papers

NM_024675.4

p.S254fs

c.760_761fs

4 papers

NM_024675.4

p.S254delFs

c.760_761delGA

2 papers

NM_024675.4

p.D255H

c.763G>C

1 paper

NM_024675.4

p.T252_S254del3

c.754_761del9

1 paper

NM_024675.4

p.L253L

c.759A>G