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

3 papers

NM_024675.4

p.G1121D

c.3362G>A

Surrounding Variants

2 papers

NM_024675.4

p.G1121V

c.3362G>T

2 papers

NM_024675.4

p.G1121fs

c.3361_3362fs

24 papers

NM_024675.4

p.G1121delFs

c.3362delC

12 papers

NM_024675.4

p.G1121fs

c.3361_3362fs

1 paper

NM_024675.4

p.G1121S

c.3361G>A

1 paper

NM_024675.4

p.D1122V

c.3365A>T

1 paper

NM_024675.4

p.E1120G

c.3359A>G

1 paper

NM_024675.4

p.E1120*

c.3358G>T

2 papers

NM_024675.4

p.D1122D

c.3366C>T

1 paper

NM_024675.4

p.D1122E

c.3366C>G

1 paper

NM_024675.4

p.D1122E

c.3366C>A

1 paper

NM_024675.4

p.V1123L

c.3367G>T