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.Q602*

c.1804C>T

Surrounding Variants

1 paper

NM_024675.4

p.Q602_L603insG

c.1804_1808ins3

1 paper

NM_024675.4

p.K601delFs

c.1803delC

1 paper

NM_024675.4

p.K601K

c.1803G>A

1 paper

NM_024675.4

p.Q602Q

c.1806A>G

1 paper

NM_024675.4

p.Q602delFs

c.1804_1805delTG

1 paper

NM_024675.4

p.K601_Q602insA

c.1801_1805ins3

1 paper

NM_024675.4

p.L603delFs

c.1807delG

1 paper

NM_024675.4

p.L600L

c.1800A>G

1 paper

NM_024675.4

p.L600*

c.1799T>G

1 paper

NM_024675.4

p.L600*

c.1799T>A

1 paper

NM_024675.4

p.L603L

c.1809A>G

5 papers

NM_024675.4

p.L604L

c.1810C>T