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.E814E

c.2442G>A

Surrounding Variants

1 paper

NM_024675.4

p.E814G

c.2441A>G

1 paper

NM_024675.4

p.E814*

c.2440G>T

1 paper

NM_024675.4

p.E814K

c.2440G>A

1 paper

NM_024675.4

p.S815L

c.2444C>T

1 paper

NM_024675.4

p.S815S

c.2445A>G

3 papers

NM_024675.4

p.I813T

c.2438T>C

1 paper

NM_024675.4

p.F816L

c.2446T>C

1 paper

NM_024675.4

p.I813L

c.2437A>C

1 paper

NM_024675.4

p.I813_E814ins10

c.2437_2441ins30

1 paper

NM_024675.4

p.F816F

c.2448C>T

1 paper

NM_024675.4

p.F816L

c.2448C>G

1 paper

NM_024675.4

p.F816L

c.2448C>A