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

5 papers

NM_024675.4

p.Q61H

c.183G>T

Surrounding Variants

5 papers

NM_024675.4

p.Q61H

c.183G>C

2 papers

NM_024675.4

p.D62Y

c.184G>T

1 paper

NM_024675.4

p.D62H

c.184G>C

2 papers

NM_024675.4

p.D62N

c.184G>A

1 paper

NM_024675.4

p.C57_Q61del5

c.169_182del15

3 papers

NM_024675.4

p.Q61L

c.182A>T

4 papers

NM_024675.4

p.Q61R

c.182A>G

1 paper

NM_024675.4

p.Q61P

c.182A>C

9 papers

NM_024675.4

p.Q61*

c.181C>T

1 paper

NM_024675.4

p.Q61E

c.181C>G

1 paper

NM_024675.4

p.Q61K

c.181C>A

1 paper

NM_024675.4

p.D62V

c.185A>T