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.R131S

c.393G>C

Surrounding Variants

1 paper

NM_024675.4

p.R131S

c.393G>T

2 papers

NM_024675.4

p.R131_V132insFs

c.393_394insC

1 paper

NM_024675.4

p.V132F

c.394G>T

1 paper

NM_024675.4

p.R131M

c.392G>T

1 paper

NM_024675.4

p.V132_S133insT

c.394_398ins3

1 paper

NM_024675.4

p.V132L

c.394G>C

1 paper

NM_024675.4

p.R131T

c.392G>C

2 papers

NM_024675.4

p.R131K

c.392G>A

1 paper

NM_024675.4

p.V132I

c.394G>A

4 papers

NM_024675.4

p.V132fs

c.394_395fs

1 paper

NM_024675.4

p.V132G

c.395T>G

2 papers

NM_024675.4

p.V132A

c.395T>C