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.Q119H

c.357A>C

Surrounding Variants

1 paper

NM_024675.4

p.Q119H

c.357A>T

1 paper

NM_024675.4

p.Q119fs

c.355_356fs

1 paper

NM_024675.4

p.Q119L

c.356A>T

2 papers

NM_024675.4

p.R120G

c.358A>G

2 papers

NM_024675.4

p.Q119R

c.356A>G

1 paper

NM_024675.4

p.Q119P

c.356A>C

6 papers

NM_024675.4

p.Q119delFs

c.355delG

1 paper

NM_024675.4

p.G114_Q119delFs

c.340_355del16

1 paper

NM_024675.4

p.R120I

c.359G>T

1 paper

NM_024675.4

p.R120T

c.359G>C

1 paper

NM_024675.4

p.R120K

c.359G>A

3 papers

NM_024675.4

p.Q119*

c.355C>T