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.T413T

c.1239A>G

Surrounding Variants

1 paper

NM_024675.4

p.T413delFs

c.1238delG

91 papers

NM_024675.4

p.R414*

c.1240C>T

1 paper

NM_024675.4

p.T413I

c.1238C>T

1 paper

NM_024675.4

p.T413R

c.1238C>G

4 papers

NM_024675.4

p.T413K

c.1238C>A

1 paper

NM_024675.4

p.T413delFs

c.1237delT

3 papers

NM_024675.4

p.R414Q

c.1241G>A

3 papers

NM_024675.4

p.T413S

c.1237A>T

1 paper

NM_024675.4

p.T413A

c.1237A>G

2 papers

NM_024675.4

p.T413P

c.1237A>C

1 paper

NM_024675.4

p.R414R

c.1242A>G

2 papers

NM_024675.4

p.R414R

c.1242A>C