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.N540N

c.1620C>T

Surrounding Variants

1 paper

NM_024675.4

p.N540insFs

c.1619dupA

1 paper

NM_024675.4

p.R541G

c.1621A>G

1 paper

NM_024675.4

p.R541_S542insT

c.1621_1625ins3

2 papers

NM_024675.4

p.N540fs

c.1618_1619fs

3 papers

NM_024675.4

p.V539_N540insFs

c.1617_1618insTT

1 paper

NM_024675.4

p.V539_N540ins1

c.1617_1618insTTA

1 paper

NM_024675.4

p.V539fs

c.1615_1616fs

1 paper

NM_024675.4

p.V539V

c.1617T>C

1 paper

NM_024675.4

p.R541S

c.1623G>T

1 paper

NM_024675.4

p.R541S

c.1623G>C

2 papers

NM_024675.4

p.R541R

c.1623G>A

1 paper

NM_024675.4

p.V539F

c.1615G>T