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.S157delFs

c.469_470delGA

Surrounding Variants

3 papers

NM_024675.4

p.Q158fs

c.472_473fs

5 papers

NM_024675.4

p.Q158*

c.472C>T

3 papers

NM_024675.4

p.S157L

c.470C>T

1 paper

NM_024675.4

p.Q158E

c.472C>G

1 paper

NM_024675.4

p.Q158K

c.472C>A

4 papers

NM_024675.4

p.S157A

c.469T>G

1 paper

NM_024675.4

p.S157P

c.469T>C

1 paper

NM_024675.4

p.S157T

c.469T>A

1 paper

NM_024675.4

p.Q158L

c.473A>T

1 paper

NM_024675.4

p.Q158R

c.473A>G

1 paper

NM_024675.4

p.Q158P

c.473A>C

5 papers

NM_024675.4

p.Q158delFs

c.472delG