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.T193N

c.578C>A

Surrounding Variants

2 papers

NM_024675.4

p.T193I

c.578C>T

1 paper

NM_024675.4

p.T193S

c.578C>G

1 paper

NM_024675.4

p.T193insFs

c.577dupA

1 paper

NM_024675.4

p.T193fs

c.577_578fs

1 paper

NM_024675.4

p.T193S

c.577A>T

1 paper

NM_024675.4

p.T193A

c.577A>G

1 paper

NM_024675.4

p.T193P

c.577A>C

1 paper

NM_024675.4

p.E194*

c.580G>T

1 paper

NM_024675.4

p.E194_I195insA

c.580_584ins3

2 papers

NM_024675.4

p.E194Q

c.580G>C

3 papers

NM_024675.4

p.E194K

c.580G>A

1 paper

NM_024675.4

p.V192V

c.576A>G