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

2 papers

NM_024675.4

p.R239K

c.716G>A

Surrounding Variants

1 paper

NM_024675.4

p.R239I

c.716G>T

2 papers

NM_024675.4

p.R239delFs

c.715delT

1 paper

NM_024675.4

p.R239S

c.717A>T

1 paper

NM_024675.4

p.R239R

c.717A>G

1 paper

NM_024675.4

p.R239G

c.715A>G

1 paper

NM_024675.4

p.R239S

c.717A>C

2 papers

NM_024675.4

p.R239fs

c.715_716fs

1 paper

NM_024675.4

p.R239fs

c.715_716fs

1 paper

NM_024675.4

p.P240A

c.718C>G

12 papers

NM_024675.4

p.P240T

c.718C>A

2 papers

NM_024675.4

p.R239delFs

c.715_716delCT

1 paper

NM_024675.4

p.R238T

c.713G>C