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.L607L

c.1821C>T

Surrounding Variants

1 paper

NM_024675.4

p.S608C

c.1822A>T

2 papers

NM_024675.4

p.S608R

c.1822A>C

1 paper

NM_024675.4

p.S608insFs

c.1822_1823insT

1 paper

NM_024675.4

p.S608I

c.1823G>T

1 paper

NM_024675.4

p.S608T

c.1823G>C

1 paper

NM_024675.4

p.S608N

c.1823G>A

1 paper

NM_024675.4

p.F606delFs

c.1817_1818delAA

1 paper

NM_024675.4

p.F606fs

c.1816_1817fs

2 papers

NM_024675.4

p.S608R

c.1824T>G

2 papers

NM_024675.4

p.S608R

c.1824T>A

1 paper

NM_024675.4

p.S605S

c.1815T>G

1 paper

NM_024675.4

p.S605S

c.1815T>C