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.I922V

c.2764A>G

Surrounding Variants

1 paper

NM_024675.4

p.I922L

c.2764A>T

1 paper

NM_024675.4

p.I922L

c.2764A>C

1 paper

NM_024675.4

p.V917_Q921del0

c.2749_2763del15

1 paper

NM_024675.4

p.I922R

c.2765T>G

1 paper

NM_024675.4

p.I922T

c.2765T>C

1 paper

NM_024675.4

p.I922K

c.2765T>A

5 papers

NM_024675.4

p.Q921H

c.2763G>T

6 papers

NM_024675.4

p.Q921fs

c.2761_2762fs

5 papers

NM_024675.4

p.Q921H

c.2763G>C

2 papers

NM_024675.4

p.Q921delFs

c.2762delT

1 paper

NM_024675.4

p.I922I

c.2766A>T

1 paper

NM_024675.4

p.Q921L

c.2762A>T