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.M416T

c.1247T>C

Surrounding Variants

2 papers

NM_024675.4

p.M416R

c.1247T>G

1 paper

NM_024675.4

p.M416delFs

c.1246delT

1 paper

NM_024675.4

p.M416_S417insFs

c.1248_1249ins5

2 papers

NM_024675.4

p.M416V

c.1246A>G

1 paper

NM_024675.4

p.S417P

c.1249T>C

1 paper

NM_024675.4

p.M416delFs

c.1248delC

4 papers

NM_024675.4

p.S415R

c.1245C>G

4 papers

NM_024675.4

p.S415R

c.1245C>A

1 paper

NM_024675.4

p.S417fs

c.1249_1250fs

1 paper

NM_024675.4

p.S415T

c.1244G>C

2 papers

NM_024675.4

p.S417F

c.1250C>T

2 papers

NM_024675.4

p.S417C

c.1250C>G