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.K174K

c.522A>G

Surrounding Variants

1 paper

NM_024675.4

p.K174N

c.522A>T

1 paper

NM_024675.4

p.K174N

c.522A>C

1 paper

NM_024675.4

p.K174fs

c.520_521fs

1 paper

NM_024675.4

p.K174I

c.521A>T

3 papers

NM_024675.4

p.R175G

c.523A>G

1 paper

NM_024675.4

p.K174R

c.521A>G

1 paper

NM_024675.4

p.K174T

c.521A>C

3 papers

NM_024675.4

p.R175fs

c.523_524fs

1 paper

NM_024675.4

p.R175I

c.524G>T

2 papers

NM_024675.4

p.R175T

c.524G>C

6 papers

NM_024675.4

p.R175K

c.524G>A

4 papers

NM_024675.4

p.K174_R175delFs

c.522_523delTT