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.P212delFs

c.635delG

Surrounding Variants

1 paper

NM_024675.4

p.P212P

c.636A>G

2 papers

NM_024675.4

p.P212fs

c.634_635fs

1 paper

NM_024675.4

p.V213_T214insT

c.637_641ins3

1 paper

NM_024675.4

p.P212insFs

c.636dupA

2 papers

NM_024675.4

p.V213L

c.637G>C

1 paper

NM_024675.4

p.V213I

c.637G>A

1 paper

NM_024675.4

p.L202_P212del11

c.604_635del33

1 paper

NM_024675.4

p.P212R

c.635C>G

1 paper

NM_024675.4

p.V213D

c.638T>A

1 paper

NM_024675.4

p.P212S

c.634C>T

1 paper

NM_024675.4

p.P212A

c.634C>G

5 papers

NM_024675.4

p.E211G

c.632A>G