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.Q66H

c.198G>C

Surrounding Variants

1 paper

NM_024675.4

p.Q66H

c.198G>T

1 paper

NM_024675.4

p.Q66Fs

c.198delinsCTTFs

1 paper

NM_024675.4

p.L67V

c.199C>G

1 paper

NM_024675.4

p.L67I

c.199C>A

1 paper

NM_024675.4

p.Q66L

c.197A>T

1 paper

NM_024675.4

p.Q66R

c.197A>G

2 papers

NM_024675.4

p.Q66P

c.197A>C

1 paper

NM_024675.4

p.L67R

c.200T>G

1 paper

NM_024675.4

p.L67P

c.200T>C

1 paper

NM_024675.4

p.L67Q

c.200T>A

32 papers

NM_024675.4

p.Q66*

c.196C>T

1 paper

NM_024675.4

p.Q66E

c.196C>G