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

2 papers

NM_024675.4

p.C57F

c.170G>T

Surrounding Variants

2 papers

NM_024675.4

p.C57S

c.170G>C

2 papers

NM_024675.4

p.C57Y

c.170G>A

1 paper

NM_024675.4

p.C57W

c.171T>G

1 paper

NM_024675.4

p.C57G

c.169T>G

1 paper

NM_024675.4

p.C57R

c.169T>C

2 papers

NM_024675.4

p.C57S

c.169T>A

1 paper

NM_024675.4

p.C57delFs

c.170delC

1 paper

NM_024675.4

p.D56_C57insFs

c.168_169insGC

1 paper

NM_024675.4

p.L58V

c.172T>G

1 paper

NM_024675.4

p.D56E

c.168T>G

1 paper

NM_024675.4

p.L58L

c.172T>C

1 paper

NM_024675.4

p.D56D

c.168T>C