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.P1097R

c.3290C>G

Surrounding Variants

4 papers

NM_024675.4

p.P1097L

c.3290C>T

1 paper

NM_024675.4

p.P1097insFs

c.3290dupC

1 paper

NM_024675.4

p.K1098fs

c.3292_3293fs

1 paper

NM_024675.4

p.N1096N

c.3288C>T

2 papers

NM_024675.4

p.N1096K

c.3288C>G

2 papers

NM_024675.4

p.N1096K

c.3288C>A

1 paper

NM_024675.4

p.K1098E

c.3292A>G

3 papers

NM_024675.4

p.N1096S

c.3287A>G

1 paper

NM_024675.4

p.N1096T

c.3287A>C

1 paper

NM_024675.4

p.K1098fs

c.3292_3293fs

2 papers

NM_024675.4

p.K1098K

c.3294G>A

1 paper

NM_024675.4

p.N1096fs

c.3286_3287fs