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.P104T

c.310C>A

Surrounding Variants

4 papers

NM_024675.4

p.P104S

c.310C>T

2 papers

NM_024675.4

p.P104A

c.310C>G

1 paper

NM_024675.4

p.G103G

c.309G>A

4 papers

NM_024675.4

p.P104L

c.311C>T

2 papers

NM_024675.4

p.P104R

c.311C>G

1 paper

NM_024675.4

p.P104H

c.311C>A

1 paper

NM_024675.4

p.P104P

c.312T>C

1 paper

NM_024675.4

p.G103V

c.308G>T

1 paper

NM_024675.4

p.G103A

c.308G>C

3 papers

NM_024675.4

p.G103E

c.308G>A

1 paper

NM_024675.4

p.G103W

c.307G>T

2 papers

NM_024675.4

p.G103R

c.307G>C