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.H786_Q795delFs

c.2358_2383del26

Surrounding Variants

2 papers

NM_024675.4

p.Q795R

c.2384A>G

3 papers

NM_024675.4

p.Q795*

c.2383C>T

2 papers

NM_024675.4

p.Q795K

c.2383C>A

1 paper

NM_024675.4

p.V791_R794del4

c.2371_2381del12

34 papers

NM_024675.4

p.G796*

c.2386G>T

2 papers

NM_024675.4

p.R794S

c.2382G>T

2 papers

NM_024675.4

p.R794S

c.2382G>C

1 paper

NM_024675.4

p.R794R

c.2382G>A

1 paper

NM_024675.4

p.R794K

c.2381G>A

1 paper

NM_024675.4

p.V791_G796del0

c.2372_2386del15

1 paper

NM_024675.4

p.G796G

c.2388A>G

1 paper

NM_024675.4

p.G796G

c.2388A>C