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.N452K

c.1356C>A

Surrounding Variants

1 paper

NM_024675.4

p.N452N

c.1356C>T

2 papers

NM_024675.4

p.N452K

c.1356C>G

1 paper

NM_024675.4

p.N450_N452del0

c.1350_1355del6

1 paper

NM_024675.4

p.K438_L451del14

c.1312_1352del42

1 paper

NM_024675.4

p.L453F

c.1357C>T

2 papers

NM_024675.4

p.N452S

c.1355A>G

1 paper

NM_024675.4

p.L453P

c.1358T>C

3 papers

NM_024675.4

p.L451F

c.1353A>T

1 paper

NM_024675.4

p.L451L

c.1353A>G

3 papers

NM_024675.4

p.L451F

c.1353A>C

1 paper

NM_024675.4

p.N450insFs

c.1350dupT

5 papers

NM_024675.4

p.L451*

c.1352T>G