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.L116*

c.347T>G

Surrounding Variants

1 paper

NM_024675.4

p.L116S

c.347T>C

2 papers

NM_024675.4

p.L116*

c.347T>A

1 paper

NM_024675.4

p.L116V

c.346T>G

1 paper

NM_024675.4

p.L116I

c.346T>A

2 papers

NM_024675.4

p.L116F

c.348A>T

1 paper

NM_024675.4

p.L116F

c.348A>C

1 paper

NM_024675.4

p.L116insFs

c.347_348insT

1 paper

NM_024675.4

p.L116fs

c.346_347fs

2 papers

NM_024675.4

p.P117S

c.349C>T

1 paper

NM_024675.4

p.P117A

c.349C>G

3 papers

NM_024675.4

p.P117T

c.349C>A

1 paper

NM_024675.4

p.G115G

c.345A>T