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

57 papers

NM_024675.4

p.V932M

c.2794G>A

Surrounding Variants

4 papers

NM_024675.4

p.V932L

c.2794G>T

5 papers

NM_024675.4

p.V932_C933insC

c.2794_2798ins3

3 papers

NM_024675.4

p.V932L

c.2794G>C

1 paper

NM_024675.4

p.V932G

c.2795T>G

1 paper

NM_024675.4

p.V932A

c.2795T>C

1 paper

NM_024675.4

p.V932E

c.2795T>A

1 paper

NM_024675.4

p.L931L

c.2793C>T

15 papers

NM_024675.4

p.L931R

c.2792T>G

3 papers

NM_024675.4

p.L931P

c.2792T>C

1 paper

NM_024675.4

p.L931H

c.2792T>A

1 paper

NM_024675.4

p.V932fs

c.2794_2795fs

1 paper

NM_024675.4

p.V932V

c.2796G>A