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.C755*

c.2265C>A

Surrounding Variants

1 paper

NM_024675.4

p.C756fs

c.2266_2267fs

3 papers

NM_024675.4

p.C756Y

c.2267G>A

1 paper

NM_024675.4

p.T754T

c.2262T>C

1 paper

NM_024675.4

p.C756C

c.2268C>T

2 papers

NM_024675.4

p.G752_C756insFs

c.2255_2267dup13

1 paper

NM_024675.4

p.T757I

c.2270C>T

1 paper

NM_024675.4

p.T757T

c.2271A>G

1 paper

NM_024675.4

p.G752_R753delFs

c.2254_2257del4

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