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.H834insFs

c.2500_2501insA

Surrounding Variants

2 papers

NM_024675.4

p.H834Y

c.2500C>T

1 paper

NM_024675.4

p.H834R

c.2501A>G

1 paper

NM_024675.4

p.H834H

c.2502T>C

1 paper

NM_024675.4

p.S835T

c.2503T>A

1 paper

NM_024675.4

p.S835fs

c.2503_2504fs

1 paper

NM_024675.4

p.H834insFs

c.2502dupT

2 papers

NM_024675.4

p.S835delFs

c.2503delA

3 papers

NM_024675.4

p.S835S

c.2505C>T

1 paper

NM_024675.4

p.S835fs

c.2503_2504fs

1 paper

NM_024675.4

p.S835S

c.2505C>A

3 papers

NM_024675.4

p.V836F

c.2506G>T

2 papers

NM_024675.4

p.V836L

c.2506G>C