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.T274P

c.820A>C

Surrounding Variants

2 papers

NM_024675.4

p.T274S

c.820A>T

1 paper

NM_024675.4

p.L273fs

c.817_818fs

3 papers

NM_024675.4

p.T274I

c.821C>T

2 papers

NM_024675.4

p.T274S

c.821C>G

2 papers

NM_024675.4

p.T274insFs

c.820dupA

1 paper

NM_024675.4

p.T274N

c.821C>A

2 papers

NM_024675.4

p.T274fs

c.820_821fs

1 paper

NM_024675.4

p.T274T

c.822T>C

2 papers

NM_024675.4

p.L273F

c.817C>T

2 papers

NM_024675.4

p.T275S

c.823A>T

2 papers

NM_024675.4

p.T275A

c.823A>G

1 paper

NM_024675.4

p.T275P

c.823A>C