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.H87R

c.260A>G

Surrounding Variants

1 paper

NM_024675.4

p.H87L

c.260A>T

1 paper

NM_024675.4

p.H87P

c.260A>C

1 paper

NM_024675.4

p.H87Q

c.261T>G

1 paper

NM_024675.4

p.H87H

c.261T>C

1 paper

NM_024675.4

p.H87Q

c.261T>A

3 papers

NM_024675.4

p.H87Y

c.259C>T

1 paper

NM_024675.4

p.H87D

c.259C>G

1 paper

NM_024675.4

p.H87N

c.259C>A

2 papers

NM_024675.4

p.L88fs

c.262_263fs

2 papers

NM_024675.4

p.L88F

c.262C>T

1 paper

NM_024675.4

p.T86T

c.258C>T

1 paper

NM_024675.4

p.L88V

c.262C>G