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

8 papers

NM_024675.4

p.L278delins

c.833_834delinsAT

Surrounding Variants

2 papers

NM_024675.4

p.L278L

c.834A>T

1 paper

NM_024675.4

p.L278L

c.834A>G

1 paper

NM_024675.4

p.L278fs

c.832_833fs

1 paper

NM_024675.4

p.L278delFs

c.833delA

1 paper

NM_024675.4

p.L278P

c.833T>C

2 papers

NM_024675.4

p.L278Q

c.833T>A

1 paper

NM_024675.4

p.L278delFs

c.832delG

1 paper

NM_024675.4

p.L278L

c.832C>T

2 papers

NM_024675.4

p.L278V

c.832C>G

1 paper

NM_024675.4

p.H276_D277del1

c.827_829delCGT

1 paper

NM_024675.4

p.K279R

c.836A>G

1 paper

NM_024675.4

p.K279T

c.836A>C