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.R131W

c.391A>T

Surrounding Variants

1 paper

NM_024675.4

p.R131G

c.391A>G

1 paper

NM_024675.4

p.R131R

c.391A>C

1 paper

NM_024675.4

p.H130delFs

c.390delG

1 paper

NM_024675.4

p.R131M

c.392G>T

1 paper

NM_024675.4

p.R131T

c.392G>C

2 papers

NM_024675.4

p.R131K

c.392G>A

3 papers

NM_024675.4

p.H130Q

c.390C>G

4 papers

NM_024675.4

p.H130_R131insFs

c.390_391insT

2 papers

NM_024675.4

p.H130fs

c.388_389fs

1 paper

NM_024675.4

p.H130insFs

c.389dupA

3 papers

NM_024675.4

p.H130Q

c.390C>A

2 papers

NM_024675.4

p.H130delFs

c.389delT