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.E347G

c.1040A>G

Surrounding Variants

3 papers

NM_024675.4

p.E347*

c.1039G>T

2 papers

NM_024675.4

p.E347insFs

c.1039_1040insA

1 paper

NM_024675.4

p.E347Q

c.1039G>C

3 papers

NM_024675.4

p.E347K

c.1039G>A

3 papers

NM_024675.4

p.K346delFs

c.1038delT

1 paper

NM_024675.4

p.K346delFs

c.1037_1038delTT

1 paper

NM_024675.4

p.E347E

c.1041A>G

1 paper

NM_024675.4

p.E347fs

c.1039_1040fs

1 paper

NM_024675.4

p.E347fs

c.1039_1040fs

1 paper

NM_024675.4

p.E347delFs

c.1039_1040delTC

12 papers

NM_024675.4

p.Q348*

c.1042C>T

1 paper

NM_024675.4

p.Q348E

c.1042C>G