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

5 papers

NM_024675.4

p.K1048delFs

c.3143delT

Surrounding Variants

1 paper

NM_024675.4

p.K1048fs

c.3142_3143fs

1 paper

NM_024675.4

p.K1048insFs

c.3143_3144insA

1 paper

NM_024675.4

p.K1048R

c.3143A>G

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.L1045_K1047del3

c.3133_3140del9

1 paper

NM_024675.4

p.M1049insFs

c.3146dupT

1 paper

NM_024675.4

p.M1049fs

c.3145_3146fs

1 paper

NM_024675.4

p.K1047K

c.3141A>G

1 paper

NM_024675.4

p.K1047R

c.3140A>G

1 paper

NM_024675.4

p.K1047*

c.3139A>T

3 papers

NM_024675.4

p.K1047E

c.3139A>G