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.Q39insFs

c.117dupA

Surrounding Variants

1 paper

NM_024675.4

p.R40I

c.119G>T

2 papers

NM_024675.4

p.R40T

c.119G>C

1 paper

NM_024675.4

p.R40K

c.119G>A

3 papers

NM_024675.4

p.Q39delFs

c.116delT

1 paper

NM_024675.4

p.R40S

c.120A>T

1 paper

NM_024675.4

p.R40*

c.118A>T

4 papers

NM_024675.4

p.R40G

c.118A>G

1 paper

NM_024675.4

p.R40R

c.120A>G

1 paper

NM_024675.4

p.R40S

c.120A>C

1 paper

NM_024675.4

p.R40delins

c.119_120delinsTT

1 paper

NM_024675.4

p.R37_Q39del0

c.109_117del9

1 paper

NM_024675.4

p.A41S

c.121G>T