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

3 papers

NM_024675.4

p.T494fs

c.1480_1481fs

Surrounding Variants

1 paper

NM_024675.4

p.T494T

c.1482T>C

1 paper

NM_024675.4

p.E495Q

c.1483G>C

1 paper

NM_024675.4

p.T494delFs

c.1482delA

4 papers

NM_024675.4

p.T494fs

c.1480_1481fs

2 papers

NM_024675.4

p.T494A

c.1480A>G

11 papers

NM_024675.4

p.P493delFs

c.1479delG

2 papers

NM_024675.4

p.P493P

c.1479C>T

1 paper

NM_024675.4

p.D496H

c.1486G>C

1 paper

NM_024675.4

p.E495delFs

c.1485delT

2 papers

NM_024675.4

p.P493L

c.1478C>T

1 paper

NM_024675.4

p.P493R

c.1478C>G

1 paper

NM_024675.4

p.P493H

c.1478C>A