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

4 papers

NM_024675.4

p.E554K

c.1660G>A

Surrounding Variants

1 paper

NM_024675.4

p.E554*

c.1660G>T

1 paper

NM_024675.4

p.E554fs

c.1660_1661fs

1 paper

NM_024675.4

p.H553H

c.1659C>T

8 papers

NM_024675.4

p.H553Q

c.1659C>G

8 papers

NM_024675.4

p.H553Q

c.1659C>A

1 paper

NM_024675.4

p.H553Y

c.1657C>T

1 paper

NM_024675.4

p.K555fs

c.1663_1664fs

3 papers

NM_024675.4

p.Q552Q

c.1656G>A

1 paper

NM_024675.4

p.K555N

c.1665A>T

1 paper

NM_024675.4

p.K555K

c.1665A>G

1 paper

NM_024675.4

p.Q552R

c.1655A>G

1 paper

NM_024675.4

p.K555N

c.1665A>C