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

2 papers

NM_024675.4

p.K346I

c.1037A>T

Surrounding Variants

1 paper

NM_024675.4

p.K346R

c.1037A>G

2 papers

NM_024675.4

p.K346T

c.1037A>C

1 paper

NM_024675.4

p.K346N

c.1038A>T

2 papers

NM_024675.4

p.K346K

c.1038A>G

1 paper

NM_024675.4

p.K346N

c.1038A>C

8 papers

NM_024675.4

p.K346fs

c.1036_1037fs

8 papers

NM_024675.4

p.K346fs

c.1036_1037fs

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