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.S1058_V1059delFs

c.3172_3176del5

Surrounding Variants

1 paper

NM_024675.4

p.V1059V

c.3177C>G

1 paper

NM_024675.4

p.V1059fs

c.3175_3176fs

1 paper

NM_024675.4

p.C1060R

c.3178T>C

2 papers

NM_024675.4

p.C1060S

c.3178T>A

3 papers

NM_024675.4

p.V1059delFs

c.3175delC

1 paper

NM_024675.4

p.A1057_S1058del2

c.3169_3173del6

2 papers

NM_024675.4

p.C1060S

c.3179G>C

3 papers

NM_024675.4

p.C1060Y

c.3179G>A

1 paper

NM_024675.4

p.A1057_S1058delFs

c.3170_3174del5

1 paper

NM_024675.4

p.A1057_V1059Fs

c.3170_3175delinsAATCAFs

1 paper

NM_024675.4

p.V1059fs

c.3175_3176fs

1 paper

NM_024675.4

p.C1060*

c.3180T>A