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.E352D

c.1056G>T

Surrounding Variants

4 papers

NM_024675.4

p.E352fs

c.1054_1055fs

1 paper

NM_024675.4

p.E352insFs

c.1055dupA

1 paper

NM_024675.4

p.E352D

c.1056G>C

2 papers

NM_024675.4

p.K353E

c.1057A>G

16 papers

NM_024675.4

p.K353fs

c.1057_1058fs

14 papers

NM_024675.4

p.E352Q

c.1054G>C

13 papers

NM_024675.4

p.Q350_T351delFs

c.1050_1053del4

1 paper

NM_024675.4

p.K353I

c.1058A>T

1 paper

NM_024675.4

p.K353R

c.1058A>G

25 papers

NM_024675.4

p.E352_K353delFs

c.1056_1057delTC

1 paper

NM_024675.4

p.K353N

c.1059A>T

1 paper

NM_024675.4

p.K353K

c.1059A>G