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.Q829R

c.2486A>G

Surrounding Variants

5 papers

NM_024675.4

p.Q829*

c.2485C>T

1 paper

NM_024675.4

p.E830*

c.2488G>T

1 paper

NM_024675.4

p.E830K

c.2488G>A

1 paper

NM_024675.4

p.T827_Q829del3

c.2479_2486del9

4 papers

NM_024675.4

p.E830fs

c.2488_2489fs

3 papers

NM_024675.4

p.C828C

c.2484C>T

1 paper

NM_024675.4

p.C828fs

c.2482_2483fs

1 paper

NM_024675.4

p.C828delFs

c.2483delC

2 papers

NM_024675.4

p.C828Y

c.2483G>A

1 paper

NM_024675.4

p.C828delFs

c.2482delA

10 papers

NM_024675.4

p.E830delFs

c.2488delC

1 paper

NM_024675.4

p.C828R

c.2482T>C