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

4 papers

NM_024675.4

p.V78F

c.232G>T

Surrounding Variants

1 paper

NM_024675.4

p.V78L

c.232G>C

19 papers

NM_024675.4

p.V78I

c.232G>A

7 papers

NM_024675.4

p.C77fs

c.229_230fs

3 papers

NM_024675.4

p.C77W

c.231T>G

1 paper

NM_024675.4

p.V78G

c.233T>G

1 paper

NM_024675.4

p.V78A

c.233T>C

1 paper

NM_024675.4

p.V78D

c.233T>A

1 paper

NM_024675.4

p.V78delFs

c.232delC

2 papers

NM_024675.4

p.V78delFs

c.232_233delAC

1 paper

NM_024675.4

p.C77F

c.230G>T

1 paper

NM_024675.4

p.C77S

c.230G>C

1 paper

NM_024675.4

p.C77Y

c.230G>A