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.H261N

c.781C>A

Surrounding Variants

1 paper

NM_024675.4

p.Q260delFs

c.780delC

1 paper

NM_024675.4

p.Q260Q

c.780G>A

1 paper

NM_024675.4

p.H261L

c.782A>T

1 paper

NM_024675.4

p.H261R

c.782A>G

1 paper

NM_024675.4

p.Q260R

c.779A>G

5 papers

NM_024675.4

p.Q260*

c.778C>T

1 paper

NM_024675.4

p.L262F

c.784C>T

1 paper

NM_024675.4

p.L262V

c.784C>G

1 paper

NM_024675.4

p.Q260insFs

c.778_779insA

1 paper

NM_024675.4

p.S259fs

c.775_776fs

2 papers

NM_024675.4

p.L262R

c.785T>G

1 paper

NM_024675.4

p.S259R

c.777T>G