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

109 papers

NM_024675.4

p.R753*

c.2257C>T

Surrounding Variants

1 paper

NM_024675.4

p.R753R

c.2257C>A

1 paper

NM_024675.4

p.R753fs

c.2257_2258fs

1 paper

NM_024675.4

p.R753L

c.2258G>T

9 papers

NM_024675.4

p.R753Q

c.2258G>A

1 paper

NM_024675.4

p.R753delFs

c.2257delG

1 paper

NM_024675.4

p.S747_R753del0

c.2240_2257del18

4 papers

NM_024675.4

p.G752G

c.2256A>G

1 paper

NM_024675.4

p.G752delFs

c.2255delC

1 paper

NM_024675.4

p.G752_R753delFs

c.2254_2257del4

1 paper

NM_024675.4

p.G752R

c.2254G>A

2 papers

NM_024675.4

p.A751A

c.2253T>C

1 paper

NM_024675.4

p.T754T

c.2262T>C