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.M1049insFs

c.3146dupT

Surrounding Variants

1 paper

NM_024675.4

p.M1049fs

c.3145_3146fs

10 papers

NM_024675.4

p.M1049T

c.3146T>C

1 paper

NM_024675.4

p.K1048fs

c.3142_3143fs

1 paper

NM_024675.4

p.K1048insFs

c.3143_3144insA

5 papers

NM_024675.4

p.K1048delFs

c.3143delT

1 paper

NM_024675.4

p.H1050H

c.3150C>T

1 paper

NM_024675.4

p.I1051V

c.3151A>G

1 paper

NM_024675.4

p.K1048R

c.3143A>G

3 papers

NM_024675.4

p.I1051S

c.3152T>G

3 papers

NM_024675.4

p.I1051T

c.3152T>C

1 paper

NM_024675.4

p.I1051N

c.3152T>A

1 paper

NM_024675.4

p.K1048fs

c.3142_3143fs