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

2 papers

NM_024675.4

p.V627delFs

c.1880_1881delCA

Surrounding Variants

1 paper

NM_024675.4

p.K628*

c.1882A>T

1 paper

NM_024675.4

p.K628E

c.1882A>G

2 papers

NM_024675.4

p.V627V

c.1881G>T

3 papers

NM_024675.4

p.V627V

c.1881G>A

2 papers

NM_024675.4

p.K628T

c.1883A>C

2 papers

NM_024675.4

p.K628N

c.1884G>T

2 papers

NM_024675.4

p.K628N

c.1884G>C

1 paper

NM_024675.4

p.V627L

c.1879G>T

1 paper

NM_024675.4

p.V627L

c.1879G>C

1 paper

NM_024675.4

p.V627fs

c.1879_1880fs

4 papers

NM_024675.4

p.S629F

c.1886C>T

1 paper

NM_024675.4

p.E625_S629delFs

c.1873_1885del13