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.S183R

c.547A>C

Surrounding Variants

2 papers

NM_024675.4

p.S183fs

c.547_548fs

1 paper

NM_024675.4

p.S183C

c.547A>T

1 paper

NM_024675.4

p.S183G

c.547A>G

1 paper

NM_024675.4

p.I182insFs

c.546dupC

1 paper

NM_024675.4

p.I182_S183insFs

c.546_547ins5

1 paper

NM_024675.4

p.I182delFs

c.546delG

1 paper

NM_024675.4

p.L171_I182del12

c.511_545del36

1 paper

NM_024675.4

p.S183I

c.548G>T

1 paper

NM_024675.4

p.S183T

c.548G>C

1 paper

NM_024675.4

p.S183N

c.548G>A

1 paper

NM_024675.4

p.S183delFs

c.547delT

2 papers

NM_024675.4

p.K177_I182del0

c.529_546del18