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

2 papers

NM_024675.4

p.Q158H

c.474G>C

Surrounding Variants

2 papers

NM_024675.4

p.Q158H

c.474G>T

3 papers

NM_024675.4

p.Q158fs

c.472_473fs

1 paper

NM_024675.4

p.Q158Q

c.474G>A

2 papers

NM_024675.4

p.E159*

c.475G>T

2 papers

NM_024675.4

p.E159Q

c.475G>C

1 paper

NM_024675.4

p.E159K

c.475G>A

1 paper

NM_024675.4

p.S157_Q158delFs

c.470_474del5

1 paper

NM_024675.4

p.Q158L

c.473A>T

1 paper

NM_024675.4

p.Q158R

c.473A>G

1 paper

NM_024675.4

p.Q158P

c.473A>C

5 papers

NM_024675.4

p.Q158delFs

c.472delG

3 papers

NM_024675.4

p.Q158fs

c.472_473fs