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.S771_Q775del5

c.2311_2324del15

Surrounding Variants

17 papers

NM_024675.4

p.Q775insFs

c.2325dupA

1 paper

NM_024675.4

p.F776I

c.2326T>A

7 papers

NM_024675.4

p.F776fs

c.2326_2327fs

2 papers

NM_024675.4

p.Q775H

c.2325A>T

2 papers

NM_024675.4

p.Q775H

c.2325A>C

1 paper

NM_024675.4

p.Q775fs

c.2323_2324fs

1 paper

NM_024675.4

p.Q775insFs

c.2324_2325ins8

3 papers

NM_024675.4

p.F776F

c.2328C>T

3 papers

NM_024675.4

p.F776fs

c.2326_2327fs

1 paper

NM_024675.4

p.Q775R

c.2324A>G

9 papers

NM_024675.4

p.D777N

c.2329G>A

2 papers

NM_024675.4

p.F776delFs

c.2328delG