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.Y743Y

c.2229T>C

Surrounding Variants

6 papers

NM_024675.4

p.Y743*

c.2229T>G

6 papers

NM_024675.4

p.Y743*

c.2229T>A

1 paper

NM_024675.4

p.Y743delFs

c.2228delT

1 paper

NM_024675.4

p.Y743insFs

c.2229dupT

3 papers

NM_024675.4

p.E744K

c.2230G>A

16 papers

NM_024675.4

p.Y743C

c.2228A>G

1 paper

NM_024675.4

p.E744fs

c.2230_2231fs

1 paper

NM_024675.4

p.E744insFs

c.2230dupG

1 paper

NM_024675.4

p.E744E

c.2232A>G

1 paper

NM_024675.4

p.S742F

c.2225C>T

3 papers

NM_024675.4

p.K745E

c.2233A>G

1 paper

NM_024675.4

p.G741_S742Fs

c.2223_2224delinsGFs