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.S431R

c.1293T>G

Surrounding Variants

1 paper

NM_024675.4

p.S431_H432insFs

c.1293_1294insG

1 paper

NM_024675.4

p.S431fs

c.1291_1292fs

1 paper

NM_024675.4

p.S431R

c.1293T>A

4 papers

NM_024675.4

p.S431delFs

c.1291_1292delCT

2 papers

NM_024675.4

p.H432fs

c.1294_1295fs

1 paper

NM_024675.4

p.S431N

c.1292G>A

1 paper

NM_024675.4

p.H432Y

c.1294C>T

3 papers

NM_024675.4

p.S431G

c.1291A>G

1 paper

NM_024675.4

p.H432R

c.1295A>G

1 paper

NM_024675.4

p.S431R

c.1291A>C

2 papers

NM_024675.4

p.H432Q

c.1296T>G

1 paper

NM_024675.4

p.H432H

c.1296T>C