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.E126delFs

c.378delT

Surrounding Variants

2 papers

NM_024675.4

p.H127Y

c.379C>T

1 paper

NM_024675.4

p.H127D

c.379C>G

1 paper

NM_024675.4

p.H127N

c.379C>A

1 paper

NM_024675.4

p.H127L

c.380A>T

1 paper

NM_024675.4

p.E126D

c.378A>T

5 papers

NM_024675.4

p.H127R

c.380A>G

1 paper

NM_024675.4

p.E126E

c.378A>G

1 paper

NM_024675.4

p.H127P

c.380A>C

1 paper

NM_024675.4

p.E126D

c.378A>C

1 paper

NM_024675.4

p.H127Q

c.381T>G

1 paper

NM_024675.4

p.H127Q

c.381T>A

1 paper

NM_024675.4

p.E126V

c.377A>T