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.T297fs

c.889_890fs

Surrounding Variants

1 paper

NM_024675.4

p.V298L

c.892G>C

1 paper

NM_024675.4

p.V298I

c.892G>A

1 paper

NM_024675.4

p.T297I

c.890C>T

1 paper

NM_024675.4

p.V298fs

c.892_893fs

2 papers

NM_024675.4

p.V298A

c.893T>C

1 paper

NM_024675.4

p.T297_V298delFs

c.889_892del4

1 paper

NM_024675.4

p.T297S

c.889A>T

7 papers

NM_024675.4

p.M296fs

c.886_887fs

1 paper

NM_024675.4

p.M296delFs

c.887delA

1 paper

NM_024675.4

p.V298V

c.894C>T

1 paper

NM_024675.4

p.V298V

c.894C>A

2 papers

NM_024675.4

p.V298delFs

c.892_893delAC