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.P758R

c.2273C>G

Surrounding Variants

5 papers

NM_024675.4

p.P758L

c.2273C>T

2 papers

NM_024675.4

p.P758S

c.2272C>T

1 paper

NM_024675.4

p.P758P

c.2274C>T

1 paper

NM_024675.4

p.P758_Q759insT

c.2272_2276ins3

1 paper

NM_024675.4

p.P758_Q759insTT

c.2272_2276ins6

1 paper

NM_024675.4

p.P758T

c.2272C>A

3 papers

NM_024675.4

p.Q759*

c.2275C>T

2 papers

NM_024675.4

p.Q759K

c.2275C>A

6 papers

NM_024675.4

p.T757_P758del2

c.2269_2273del6

2 papers

NM_024675.4

p.C755_P758del4

c.2263_2273del12

1 paper

NM_024675.4

p.T757T

c.2271A>G

1 paper

NM_024675.4

p.T757I

c.2270C>T