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

11 papers

NM_024675.4

p.Q350*

c.1048C>T

Surrounding Variants

1 paper

NM_024675.4

p.Q350E

c.1048C>G

1 paper

NM_024675.4

p.Q350K

c.1048C>A

1 paper

NM_024675.4

p.N349del1

c.1045_1046delATT

3 papers

NM_024675.4

p.Q350fs

c.1048_1049fs

1 paper

NM_024675.4

p.N349K

c.1047T>G

1 paper

NM_024675.4

p.N349K

c.1047T>A

3 papers

NM_024675.4

p.N349delFs

c.1046delT

1 paper

NM_024675.4

p.Q350L

c.1049A>T

1 paper

NM_024675.4

p.Q350delFs

c.1048delG

1 paper

NM_024675.4

p.N349T

c.1046A>C

8 papers

NM_024675.4

p.Q350fs

c.1048_1049fs

2 papers

NM_024675.4

p.N349fs

c.1045_1046fs