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.T226S

c.677C>G

Surrounding Variants

1 paper

NM_024675.4

p.T226I

c.677C>T

1 paper

NM_024675.4

p.T226S

c.676A>T

4 papers

NM_024675.4

p.T226A

c.676A>G

1 paper

NM_024675.4

p.P212_P225del14

c.634_674del42

2 papers

NM_024675.4

p.A227S

c.679G>T

2 papers

NM_024675.4

p.A227P

c.679G>C

2 papers

NM_024675.4

p.A227T

c.679G>A

1 paper

NM_024675.4

p.P225P

c.675A>G

1 paper

NM_024675.4

p.P225fs

c.673_674fs

1 paper

NM_024675.4

p.A227G

c.680C>G

1 paper

NM_024675.4

p.P225R

c.674C>G

1 paper

NM_024675.4

p.P225S

c.673C>T