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

2 papers

NM_024675.4

p.L273F

c.817C>T

Surrounding Variants

1 paper

NM_024675.4

p.E272E

c.816A>G

1 paper

NM_024675.4

p.L273fs

c.817_818fs

2 papers

NM_024675.4

p.E272G

c.815A>G

5 papers

NM_024675.4

p.E272*

c.814G>T

7 papers

NM_024675.4

p.E272K

c.814G>A

2 papers

NM_024675.4

p.T274S

c.820A>T

1 paper

NM_024675.4

p.T274P

c.820A>C

1 paper

NM_024675.4

p.S271R

c.813T>G

1 paper

NM_024675.4

p.S271R

c.813T>A

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