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.S106A

c.316T>G

Surrounding Variants

1 paper

NM_024675.4

p.S106P

c.316T>C

1 paper

NM_024675.4

p.S106T

c.316T>A

1 paper

NM_024675.4

p.S106fs

c.316_317fs

14 papers

NM_024675.4

p.E105D

c.315G>T

14 papers

NM_024675.4

p.E105D

c.315G>C

1 paper

NM_024675.4

p.S106F

c.317C>T

1 paper

NM_024675.4

p.S106C

c.317C>G

1 paper

NM_024675.4

p.S106Y

c.317C>A

2 papers

NM_024675.4

p.S106S

c.318C>T

1 paper

NM_024675.4

p.E105V

c.314A>T

3 papers

NM_024675.4

p.E105G

c.314A>G

1 paper

NM_024675.4

p.E105A

c.314A>C