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.Q125H

c.375A>T

Surrounding Variants

1 paper

NM_024675.4

p.Q125Q

c.375A>G

1 paper

NM_024675.4

p.Q125H

c.375A>C

1 paper

NM_024675.4

p.E126Q

c.376G>C

5 papers

NM_024675.4

p.E126K

c.376G>A

1 paper

NM_024675.4

p.Q125L

c.374A>T

1 paper

NM_024675.4

p.Q125R

c.374A>G

1 paper

NM_024675.4

p.Q125P

c.374A>C

1 paper

NM_024675.4

p.Q125*

c.373C>T

1 paper

NM_024675.4

p.Q125E

c.373C>G

1 paper

NM_024675.4

p.Q125_E126insT

c.373_377ins3

1 paper

NM_024675.4

p.Q125K

c.373C>A

1 paper

NM_024675.4

p.E126V

c.377A>T