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.Q1044Q

c.3132A>G

Surrounding Variants

4 papers

NM_024675.4

p.Q1044H

c.3132A>T

4 papers

NM_024675.4

p.Q1044H

c.3132A>C

2 papers

NM_024675.4

p.L1045F

c.3133C>T

3 papers

NM_024675.4

p.L1045H

c.3134T>A

3 papers

NM_024675.4

p.Q1044*

c.3130C>T

1 paper

NM_024675.4

p.Q1044K

c.3130C>A

1 paper

NM_024675.4

p.G1043G

c.3129T>G

1 paper

NM_024675.4

p.G1043G

c.3129T>C

2 papers

NM_024675.4

p.L1045L

c.3135C>T

1 paper

NM_024675.4

p.G1043V

c.3128G>T

11 papers

NM_024675.4

p.G1043A

c.3128G>C

6 papers

NM_024675.4

p.G1043D

c.3128G>A