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.L403V

c.1207C>G

Surrounding Variants

1 paper

NM_024675.4

p.L403fs

c.1207_1208fs

4 papers

NM_024675.4

p.L402delFs

c.1206delA

1 paper

NM_024675.4

p.L402fs

c.1204_1205fs

1 paper

NM_024675.4

p.L403R

c.1208T>G

1 paper

NM_024675.4

p.L402L

c.1206T>C

1 paper

NM_024675.4

p.L402delins

c.1205_1206delinsGC

1 paper

NM_024675.4

p.L402R

c.1205T>G

1 paper

NM_024675.4

p.L402P

c.1205T>C

1 paper

NM_024675.4

p.L402delFs

c.1204delG

3 papers

NM_024675.4

p.L403fs

c.1207_1208fs

1 paper

NM_024675.4

p.L403L

c.1209G>C

1 paper

NM_024675.4

p.L403L

c.1209G>A