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.Q430delFs

c.1288delG

Surrounding Variants

1 paper

NM_024675.4

p.Q430fs

c.1288_1289fs

1 paper

NM_024675.4

p.Q430Q

c.1290G>A

1 paper

NM_024675.4

p.I429_Q430delFs

c.1285_1288del4

1 paper

NM_024675.4

p.Q430*

c.1288C>T

1 paper

NM_024675.4

p.I429M

c.1287T>G

3 papers

NM_024675.4

p.S431G

c.1291A>G

1 paper

NM_024675.4

p.S431R

c.1291A>C

1 paper

NM_024675.4

p.I429S

c.1286T>G

1 paper

NM_024675.4

p.I429T

c.1286T>C

1 paper

NM_024675.4

p.I429delins

c.1285_1286delinsTC

1 paper

NM_024675.4

p.S431N

c.1292G>A

1 paper

NM_024675.4

p.S431_H432insFs

c.1293_1294insG