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.G165V

c.494G>T

Surrounding Variants

1 paper

NM_024675.4

p.G165A

c.494G>C

2 papers

NM_024675.4

p.G165D

c.494G>A

1 paper

NM_024675.4

p.G165C

c.493G>T

1 paper

NM_024675.4

p.G165R

c.493G>C

1 paper

NM_024675.4

p.G165S

c.493G>A

3 papers

NM_024675.4

p.G165G

c.495C>T

1 paper

NM_024675.4

p.F164L

c.492T>G

1 paper

NM_024675.4

p.F164L

c.492T>A

1 paper

NM_024675.4

p.T166S

c.496A>T

1 paper

NM_024675.4

p.T166A

c.496A>G

1 paper

NM_024675.4

p.T166P

c.496A>C

2 papers

NM_024675.4

p.F164C

c.491T>G