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.K543M

c.1628A>T

Surrounding Variants

1 paper

NM_024675.4

p.K543R

c.1628A>G

1 paper

NM_024675.4

p.K543*

c.1627A>T

1 paper

NM_024675.4

p.K543E

c.1627A>G

1 paper

NM_024675.4

p.E544fs

c.1630_1631fs

1 paper

NM_024675.4

p.S542F

c.1625C>T

1 paper

NM_024675.4

p.E544delFs

c.1630delC

18 papers

NM_024675.4

p.E545*

c.1633G>T

1 paper

NM_024675.4

p.R541S

c.1623G>T

1 paper

NM_024675.4

p.E545Q

c.1633G>C

1 paper

NM_024675.4

p.R541S

c.1623G>C

10 papers

NM_024675.4

p.E545K

c.1633G>A

2 papers

NM_024675.4

p.R541R

c.1623G>A