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.E194D

c.582A>T

Surrounding Variants

1 paper

NM_024675.4

p.E194D

c.582A>C

1 paper

NM_024675.4

p.E194delFs

c.580_581delTC

1 paper

NM_024675.4

p.I195L

c.583A>T

1 paper

NM_024675.4

p.E194V

c.581A>T

2 papers

NM_024675.4

p.I195V

c.583A>G

1 paper

NM_024675.4

p.E194G

c.581A>G

1 paper

NM_024675.4

p.I195L

c.583A>C

1 paper

NM_024675.4

p.E194A

c.581A>C

1 paper

NM_024675.4

p.I195_R196insA

c.583_587ins3

1 paper

NM_024675.4

p.E194del1

c.580_581delTTC

2 papers

NM_024675.4

p.I195R

c.584T>G

4 papers

NM_024675.4

p.I195T

c.584T>C