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.Q55H

c.165A>T

Surrounding Variants

1 paper

NM_024675.4

p.Q55H

c.165A>C

2 papers

NM_024675.4

p.D56fs

c.166_167fs

2 papers

NM_024675.4

p.D56Y

c.166G>T

1 paper

NM_024675.4

p.D56H

c.166G>C

2 papers

NM_024675.4

p.D56N

c.166G>A

1 paper

NM_024675.4

p.Q55delFs

c.165delT

1 paper

NM_024675.4

p.Q55L

c.164A>T

1 paper

NM_024675.4

p.Q55R

c.164A>G

1 paper

NM_024675.4

p.Q55P

c.164A>C

3 papers

NM_024675.4

p.Q55*

c.163C>T

1 paper

NM_024675.4

p.Q55E

c.163C>G

1 paper

NM_024675.4

p.E54insFs

c.161dupA