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.V791V

c.2373G>A

Surrounding Variants

1 paper

NM_024675.4

p.S792T

c.2374T>A

3 papers

NM_024675.4

p.S792*

c.2375C>G

3 papers

NM_024675.4

p.S792*

c.2375C>A

1 paper

NM_024675.4

p.G793S

c.2377G>A

1 paper

NM_024675.4

p.G793fs

c.2377_2378fs

1 paper

NM_024675.4

p.Q790delFs

c.2368delG

1 paper

NM_024675.4

p.G793V

c.2378G>T

5 papers

NM_024675.4

p.Q790*

c.2368C>T

3 papers

NM_024675.4

p.L789L

c.2367G>C

1 paper

NM_024675.4

p.L789L

c.2367G>A

8 papers

NM_024675.4

p.G793G

c.2379C>T

1 paper

NM_024675.4

p.L789P

c.2366T>C