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.S869fs

c.2605_2606fs

Surrounding Variants

7 papers

NM_024675.4

p.S869S

c.2607C>T

1 paper

NM_024675.4

p.S869S

c.2607C>A

5 papers

NM_024675.4

p.V870L

c.2608G>T

1 paper

NM_024675.4

p.V870insFs

c.2608_2609insC

4 papers

NM_024675.4

p.V870L

c.2608G>C

5 papers

NM_024675.4

p.V870I

c.2608G>A

14 papers

NM_024675.4

p.S869delFs

c.2607delG

4 papers

NM_024675.4

p.S869F

c.2606C>T

9 papers

NM_024675.4

p.S869C

c.2606C>G

2 papers

NM_024675.4

p.S869Y

c.2606C>A

1 paper

NM_024675.4

p.S869delFs

c.2605delA

1 paper

NM_024675.4

p.C868insFs

c.2603_2604dupGT