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.E331A

c.992A>C

Surrounding Variants

1 paper

NM_024675.4

p.E331_L332insTA

c.991_995ins6

1 paper

NM_024675.4

p.E331Q

c.991G>C

1 paper

NM_024675.4

p.E331E

c.993A>G

1 paper

NM_024675.4

p.N330_E331del1

c.989_991delCAT

1 paper

NM_024675.4

p.N330N

c.990T>C

1 paper

NM_024675.4

p.L332F

c.994C>T

1 paper

NM_024675.4

p.L332insFs

c.994dupC

3 papers

NM_024675.4

p.L332P

c.995T>C

8 papers

NM_024675.4

p.L332H

c.995T>A

3 papers

NM_024675.4

p.N330S

c.989A>G

1 paper

NM_024675.4

p.N330D

c.988A>G

1 paper

NM_024675.4

p.L329L

c.987A>T