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.W1038Splc

c.3114-2A>T

Surrounding Variants

1 paper

NM_024675.4

p.W1038Splc

c.3114-2A>G

1 paper

NM_024675.4

p.W1038L

c.3113G>T

1 paper

NM_024675.4

p.W1038Splc

c.3114-1G>C

131 papers

NM_024675.4

p.W1038*

c.3113G>A

1 paper

NM_024675.4

p.W1038Splc

c.3114-4T>A

1 paper

NM_024675.4

p.W1038C

c.3114G>T

1 paper

NM_024675.4

p.W1038C

c.3114G>C

110 papers

NM_024675.4

p.W1038*

c.3114G>A

18 papers

NM_024675.4

p.N1039fs

c.3115_3116fs

1 paper

NM_024675.4

p.W1038Splc

c.3114-5C>T

2 papers

NM_024675.4

p.N1039_L1040insA

c.3115_3119ins3

1 paper

NM_024675.4

p.W1038delFs

c.3114delC