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.V989fs

c.2965_2966fs

Surrounding Variants

1 paper

NM_024675.4

p.Q988_V989insFs

c.2964_2965insAA

12 papers

NM_024675.4

p.Q988delFs

c.2964delT

2 papers

NM_024675.4

p.V989insFs

c.2966_2967ins8

1 paper

NM_024675.4

p.V989V

c.2967A>G

2 papers

NM_024675.4

p.V989fs

c.2965_2966fs

1 paper

NM_024675.4

p.V989delFs

c.2966delA

31 papers

NM_024675.4

p.E990*

c.2968G>T

1 paper

NM_024675.4

p.E990K

c.2968G>A

16 papers

NM_024675.4

p.Q988*

c.2962C>T

2 papers

NM_024675.4

p.E990fs

c.2968_2969fs

1 paper

NM_024675.4

p.V989_E990del1

c.2966_2968delCTA

1 paper

NM_024675.4

p.Q987L

c.2960A>T