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.L1040S

c.3119T>C

Surrounding Variants

1 paper

NM_024675.4

p.W1038_L1040del0

c.3114_3119del6

14 papers

NM_024675.4

p.N1039fs

c.3115_3116fs

1 paper

NM_024675.4

p.N1039K

c.3117T>G

1 paper

NM_024675.4

p.N1039K

c.3117T>A

43 papers

NM_024675.4

p.N1039delFs

c.3116delT

2 papers

NM_024675.4

p.K1041*

c.3121A>T

1 paper

NM_024675.4

p.K1041E

c.3121A>G

13 papers

NM_024675.4

p.K1041T

c.3122A>C

1 paper

NM_024675.4

p.W1038_N1039delFs

c.3114_3115delTC

18 papers

NM_024675.4

p.N1039fs

c.3115_3116fs

2 papers

NM_024675.4

p.N1039_L1040insA

c.3115_3119ins3

1 paper

NM_024675.4

p.W1038delFs

c.3114delC