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.Q151P

c.452A>C

Surrounding Variants

1 paper

NM_024675.4

p.Q151L

c.452A>T

3 papers

NM_024675.4

p.Q151R

c.452A>G

1 paper

NM_024675.4

p.Q151H

c.453G>T

1 paper

NM_024675.4

p.Q151H

c.453G>C

1 paper

NM_024675.4

p.R146_Q151delFs

c.438_451del14

8 papers

NM_024675.4

p.Q151*

c.451C>T

1 paper

NM_024675.4

p.Q151E

c.451C>G

1 paper

NM_024675.4

p.Q151K

c.451C>A

1 paper

NM_024675.4

p.Q150H

c.450G>T

1 paper

NM_024675.4

p.Q150H

c.450G>C

3 papers

NM_024675.4

p.K152*

c.454A>T

1 paper

NM_024675.4

p.K152E

c.454A>G