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.I966K

c.2897T>A

Surrounding Variants

1 paper

NM_024675.4

p.I966R

c.2897T>G

8 papers

NM_024675.4

p.I966T

c.2897T>C

1 paper

NM_024675.4

p.I966I

c.2898A>T

1 paper

NM_024675.4

p.I966L

c.2896A>T

6 papers

NM_024675.4

p.I966V

c.2896A>G

1 paper

NM_024675.4

p.I966M

c.2898A>G

1 paper

NM_024675.4

p.I966L

c.2896A>C

1 paper

NM_024675.4

p.N965K

c.2895T>G

1 paper

NM_024675.4

p.N965N

c.2895T>C

1 paper

NM_024675.4

p.N965K

c.2895T>A

1 paper

NM_024675.4

p.K967*

c.2899A>T

2 papers

NM_024675.4

p.K967E

c.2899A>G