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

3 papers

NM_024675.4

p.E194K

c.580G>A

Surrounding Variants

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

1 paper

NM_024675.4

p.E194V

c.581A>T

1 paper

NM_024675.4

p.E194G

c.581A>G

1 paper

NM_024675.4

p.E194A

c.581A>C

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.T193N

c.578C>A

1 paper

NM_024675.4

p.E194D

c.582A>T

1 paper

NM_024675.4

p.E194D

c.582A>C