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.Y408C

c.1223A>G

Surrounding Variants

4 papers

NM_024675.4

p.Y408D

c.1222T>G

7 papers

NM_024675.4

p.Y408H

c.1222T>C

1 paper

NM_024675.4

p.Y408Y

c.1224T>C

1 paper

NM_024675.4

p.E407delFs

c.1221delT

2 papers

NM_024675.4

p.Y409D

c.1225T>G

2 papers

NM_024675.4

p.Y409H

c.1225T>C

1 paper

NM_024675.4

p.E407D

c.1221A>T

1 paper

NM_024675.4

p.E407E

c.1221A>G

1 paper

NM_024675.4

p.E407D

c.1221A>C

1 paper

NM_024675.4

p.Y409F

c.1226A>T

5 papers

NM_024675.4

p.Y409C

c.1226A>G

2 papers

NM_024675.4

p.E407G

c.1220A>G