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.I265T

c.794T>C

Surrounding Variants

1 paper

NM_024675.4

p.I265fs

c.793_794fs

2 papers

NM_024675.4

p.H264_I265delFs

c.791_794del4

2 papers

NM_024675.4

p.I265V

c.793A>G

1 paper

NM_024675.4

p.H264delFs

c.792delG

5 papers

NM_024675.4

p.P266S

c.796C>T

1 paper

NM_024675.4

p.H264H

c.792C>T

4 papers

NM_024675.4

p.H264Q

c.792C>G

3 papers

NM_024675.4

p.H264Q

c.792C>A

1 paper

NM_024675.4

p.P266T

c.796C>A

3 papers

NM_024675.4

p.P266L

c.797C>T

1 paper

NM_024675.4

p.P266R

c.797C>G

1 paper

NM_024675.4

p.P266insFs

c.797_798insT