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.L337F

c.1011A>T

Surrounding Variants

1 paper

NM_024675.4

p.L337F

c.1011A>C

2 papers

NM_024675.4

p.L337delFs

c.1010delA

5 papers

NM_024675.4

p.L337*

c.1010T>G

68 papers

NM_024675.4

p.L337S

c.1010T>C

5 papers

NM_024675.4

p.L337*

c.1010T>A

2 papers

NM_024675.4

p.P338S

c.1012C>T

1 paper

NM_024675.4

p.P338A

c.1012C>G

1 paper

NM_024675.4

p.P338T

c.1012C>A

1 paper

NM_024675.4

p.L337_P338insGTC

c.1009_1013ins9

3 papers

NM_024675.4

p.P338L

c.1013C>T

2 papers

NM_024675.4

p.L337fs

c.1009_1010fs

1 paper

NM_024675.4

p.N336N

c.1008C>T