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.K45E

c.133A>G

Surrounding Variants

3 papers

NM_024675.4

p.K45Q

c.133A>C

2 papers

NM_024675.4

p.I44insFs

c.131dupT

1 paper

NM_024675.4

p.I44delFs

c.131_132delAA

1 paper

NM_024675.4

p.I44fs

c.130_131fs

1 paper

NM_024675.4

p.I44M

c.132T>G

1 paper

NM_024675.4

p.I44I

c.132T>A

1 paper

NM_024675.4

p.K45M

c.134A>T

2 papers

NM_024675.4

p.K45R

c.134A>G

2 papers

NM_024675.4

p.K45T

c.134A>C

1 paper

NM_024675.4

p.I44insFs

c.131_132insAA

1 paper

NM_024675.4

p.I44S

c.131T>G

1 paper

NM_024675.4

p.K45N

c.135G>T