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.T235delFs

c.703delT

Surrounding Variants

1 paper

NM_024675.4

p.T235I

c.704C>T

1 paper

NM_024675.4

p.T235R

c.704C>G

3 papers

NM_024675.4

p.T235insFs

c.703dupA

1 paper

NM_024675.4

p.T235K

c.704C>A

2 papers

NM_024675.4

p.T235S

c.703A>T

2 papers

NM_024675.4

p.T235A

c.703A>G

1 paper

NM_024675.4

p.T235fs

c.703_704fs

1 paper

NM_024675.4

p.F236V

c.706T>G

1 paper

NM_024675.4

p.F236I

c.706T>A

1 paper

NM_024675.4

p.F236S

c.707T>C

1 paper

NM_024675.4

p.D234V

c.701A>T

1 paper

NM_024675.4

p.D234G

c.701A>G