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.A308G

c.923C>G

Surrounding Variants

3 papers

NM_024675.4

p.A308V

c.923C>T

2 papers

NM_024675.4

p.A308D

c.923C>A

2 papers

NM_024675.4

p.A308A

c.924T>C

1 paper

NM_024675.4

p.A308S

c.922G>T

1 paper

NM_024675.4

p.A308T

c.922G>A

2 papers

NM_024675.4

p.K307delFs

c.921delT

35 papers

NM_024675.4

p.I309V

c.925A>G

1 paper

NM_024675.4

p.K307fs

c.919_920fs

1 paper

NM_024675.4

p.I309fs

c.925_926fs

1 paper

NM_024675.4

p.N302_N306del5

c.904_917del15

1 paper

NM_024675.4

p.I309insFs

c.925dupA

1 paper

NM_024675.4

p.I309R

c.926T>G