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

14 papers

NM_024675.4

p.E352Q

c.1054G>C

Surrounding Variants

13 papers

NM_024675.4

p.Q350_T351delFs

c.1050_1053del4

1 paper

NM_024675.4

p.T351T

c.1053A>G

1 paper

NM_024675.4

p.T351T

c.1053A>C

6 papers

NM_024675.4

p.T351fs

c.1051_1052fs

1 paper

NM_024675.4

p.E352D

c.1056G>T

4 papers

NM_024675.4

p.E352fs

c.1054_1055fs

1 paper

NM_024675.4

p.E352insFs

c.1055dupA

1 paper

NM_024675.4

p.E352D

c.1056G>C

1 paper

NM_024675.4

p.T351I

c.1052C>T

1 paper

NM_024675.4

p.T351R

c.1052C>G

1 paper

NM_024675.4

p.T351insFs

c.1051dupA

1 paper

NM_024675.4

p.T351K

c.1052C>A