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.E658fs

c.1972_1973fs

Surrounding Variants

4 papers

NM_024675.4

p.E658*

c.1972G>T

1 paper

NM_024675.4

p.E658K

c.1972G>A

1 paper

NM_024675.4

p.E657E

c.1971G>A

1 paper

NM_024675.4

p.E658delFs

c.1972delC

1 paper

NM_024675.4

p.E658E

c.1974A>G

3 papers

NM_024675.4

p.E657*

c.1969G>T

1 paper

NM_024675.4

p.E657K

c.1969G>A

1 paper

NM_024675.4

p.L659fs

c.1975_1976fs

1 paper

NM_024675.4

p.L659V

c.1975C>G

1 paper

NM_024675.4

p.E658_L659del1

c.1973_1975delGTT

1 paper

NM_024675.4

p.P656P

c.1968A>T

2 papers

NM_024675.4

p.P656P

c.1968A>G