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.Q348R

c.1043A>G

Surrounding Variants

1 paper

NM_024675.4

p.Q348delFs

c.1042delG

12 papers

NM_024675.4

p.Q348*

c.1042C>T

1 paper

NM_024675.4

p.Q348E

c.1042C>G

3 papers

NM_024675.4

p.Q348K

c.1042C>A

1 paper

NM_024675.4

p.E347delFs

c.1041delT

1 paper

NM_024675.4

p.K346_E347delFs

c.1038_1041del4

21 papers

NM_024675.4

p.K346_E347delFs

c.1037_1041del5

1 paper

NM_024675.4

p.Q348Q

c.1044A>G

1 paper

NM_024675.4

p.Q348H

c.1044A>C

1 paper

NM_024675.4

p.E347_Q348delins

c.1041_1044delinsT

2 papers

NM_024675.4

p.N349fs

c.1045_1046fs

1 paper

NM_024675.4

p.E347E

c.1041A>G