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

3 papers

NM_024675.4

p.H264Q

c.792C>A

Surrounding Variants

1 paper

NM_024675.4

p.H264H

c.792C>T

4 papers

NM_024675.4

p.H264Q

c.792C>G

1 paper

NM_024675.4

p.I265fs

c.793_794fs

1 paper

NM_024675.4

p.H264L

c.791A>T

2 papers

NM_024675.4

p.I265V

c.793A>G

2 papers

NM_024675.4

p.H264R

c.791A>G

1 paper

NM_024675.4

p.H264delFs

c.792delG

1 paper

NM_024675.4

p.H264delFs

c.790delG

1 paper

NM_024675.4

p.L262_E263del2

c.784_788del6

1 paper

NM_024675.4

p.I265T

c.794T>C

2 papers

NM_024675.4

p.H264Y

c.790C>T

1 paper

NM_024675.4

p.H264D

c.790C>G