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.S415T

c.1244G>C

Surrounding Variants

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.S415C

c.1243A>T

4 papers

NM_024675.4

p.S415R

c.1243A>C

2 papers

NM_024675.4

p.M416V

c.1246A>G

1 paper

NM_024675.4

p.R414R

c.1242A>G

2 papers

NM_024675.4

p.R414R

c.1242A>C

2 papers

NM_024675.4

p.M416R

c.1247T>G

1 paper

NM_024675.4

p.M416T

c.1247T>C

1 paper

NM_024675.4

p.M416delFs

c.1246delT

3 papers

NM_024675.4

p.R414Q

c.1241G>A

1 paper

NM_024675.4

p.M416_S417insFs

c.1248_1249ins5