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.E371V

c.1112A>T

Surrounding Variants

1 paper

NM_024675.4

p.E371G

c.1112A>G

2 papers

NM_024675.4

p.E371*

c.1111G>T

1 paper

NM_024675.4

p.E371Q

c.1111G>C

2 papers

NM_024675.4

p.E371K

c.1111G>A

1 paper

NM_024675.4

p.Q370Q

c.1110G>A

1 paper

NM_024675.4

p.S372G

c.1114A>G

2 papers

NM_024675.4

p.S372R

c.1114A>C

1 paper

NM_024675.4

p.S372I

c.1115G>T

1 paper

NM_024675.4

p.S372insFs

c.1114_1115ins4

1 paper

NM_024675.4

p.S372T

c.1115G>C

1 paper

NM_024675.4

p.S372N

c.1115G>A

1 paper

NM_024675.4

p.Q370R

c.1109A>G