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.V287L

c.859G>T

Surrounding Variants

1 paper

NM_024675.4

p.V287L

c.859G>C

1 paper

NM_024675.4

p.V287A

c.860T>C

1 paper

NM_024675.4

p.P286P

c.858T>C

2 papers

NM_024675.4

p.P286delFs

c.857delG

3 papers

NM_024675.4

p.P286L

c.857C>T

2 papers

NM_024675.4

p.V287insFs

c.860dupT

2 papers

NM_024675.4

p.S288fs

c.862_863fs

2 papers

NM_024675.4

p.P286fs

c.856_857fs

2 papers

NM_024675.4

p.P286S

c.856C>T

1 paper

NM_024675.4

p.T284_V287delFs

c.850_860del11

1 paper

NM_024675.4

p.S288N

c.863G>A

3 papers

NM_024675.4

p.S285L

c.854C>T