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.S766S

c.2298A>G

Surrounding Variants

1 paper

NM_024675.4

p.S766fs

c.2296_2297fs

5 papers

NM_024675.4

p.S766delFs

c.2296_2297delGA

1 paper

NM_024675.4

p.K764_S766del3

c.2290_2297del9

1 paper

NM_024675.4

p.S766L

c.2297C>T

2 papers

NM_024675.4

p.S766*

c.2297C>G

2 papers

NM_024675.4

p.S766*

c.2297C>A

3 papers

NM_024675.4

p.V767fs

c.2299_2300fs

1 paper

NM_024675.4

p.D765delFs

c.2295delG

1 paper

NM_024675.4

p.D765D

c.2295C>T

1 paper

NM_024675.4

p.V767fs

c.2299_2300fs

2 papers

NM_024675.4

p.V767V

c.2301C>A

1 paper

NM_024675.4

p.C768fs

c.2302_2303fs