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.R238G

c.712A>G

Surrounding Variants

7 papers

NM_024675.4

p.R238*

c.712A>T

1 paper

NM_024675.4

p.R238R

c.712A>C

1 paper

NM_024675.4

p.R238T

c.713G>C

1 paper

NM_024675.4

p.R238K

c.713G>A

1 paper

NM_024675.4

p.L237L

c.711A>C

1 paper

NM_024675.4

p.F236insFs

c.707_708ins16

1 paper

NM_024675.4

p.L237R

c.710T>G

2 papers

NM_024675.4

p.L237Q

c.710T>A

1 paper

NM_024675.4

p.L237L

c.709C>T

1 paper

NM_024675.4

p.L237V

c.709C>G

1 paper

NM_024675.4

p.L237I

c.709C>A

1 paper

NM_024675.4

p.T235_F236del2

c.703_707del6