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.G1000del1

c.2998_2999delGCC

Surrounding Variants

1 paper

NM_024675.4

p.K1001E

c.3001A>G

1 paper

NM_024675.4

p.K1001_E1002insC

c.3001_3005ins3

1 paper

NM_024675.4

p.G1000delFs

c.2999delC

1 paper

NM_024675.4

p.G999_G1000del1

c.2997_2999delCCT

3 papers

NM_024675.4

p.G999_G1000delFs

c.2997_2998delCT

2 papers

NM_024675.4

p.E1002*

c.3004G>T

2 papers

NM_024675.4

p.G1000fs

c.2998_2999fs

3 papers

NM_024675.4

p.E1002fs

c.3004_3005fs

1 paper

NM_024675.4

p.G999G

c.2997A>T

1 paper

NM_024675.4

p.G999V

c.2996G>T

2 papers

NM_024675.4

p.G999Splc

c.2997-1G>C

5 papers

NM_024675.4

p.G999Splc

c.2997-1G>A