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.T1029T

c.3087T>A

Surrounding Variants

2 papers

NM_024675.4

p.T1029S

c.3086C>G

4 papers

NM_024675.4

p.T1030A

c.3088A>G

4 papers

NM_024675.4

p.T1029fs

c.3085_3086fs

20 papers

NM_024675.4

p.T1030I

c.3089C>T

1 paper

NM_024675.4

p.T1030N

c.3089C>A

2 papers

NM_024675.4

p.T1029S

c.3085A>T

1 paper

NM_024675.4

p.T1029A

c.3085A>G

2 papers

NM_024675.4

p.G1028fs

c.3082_3083fs

1 paper

NM_024675.4

p.G1028V

c.3083G>T

1 paper

NM_024675.4

p.G1028D

c.3083G>A

1 paper

NM_024675.4

p.E1024_L1027del4

c.3070_3080del12

1 paper

NM_024675.4

p.I1031V

c.3091A>G