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.L63L

c.189C>G

Surrounding Variants

4 papers

NM_024675.4

p.S64A

c.190T>G

1 paper

NM_024675.4

p.L63R

c.188T>G

3 papers

NM_024675.4

p.L63P

c.188T>C

1 paper

NM_024675.4

p.S64P

c.190T>C

2 papers

NM_024675.4

p.S64T

c.190T>A

2 papers

NM_024675.4

p.L63H

c.188T>A

4 papers

NM_024675.4

p.S64L

c.191C>T

2 papers

NM_024675.4

p.L63F

c.187C>T

3 papers

NM_024675.4

p.L63V

c.187C>G

1 paper

NM_024675.4

p.S64insFs

c.190dupT

2 papers

NM_024675.4

p.L63I

c.187C>A

1 paper

NM_024675.4

p.C57_L63del7

c.169_188del21