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

3 papers

NM_024675.4

p.E42A

c.125A>C

Surrounding Variants

1 paper

NM_024675.4

p.E42V

c.125A>T

6 papers

NM_024675.4

p.E42G

c.125A>G

1 paper

NM_024675.4

p.E42insFs

c.125_126insT

1 paper

NM_024675.4

p.E42*

c.124G>T

1 paper

NM_024675.4

p.E42insFs

c.124_125insA

1 paper

NM_024675.4

p.E42Q

c.124G>C

2 papers

NM_024675.4

p.E42K

c.124G>A

2 papers

NM_024675.4

p.A41delFs

c.123delA

6 papers

NM_024675.4

p.E42D

c.126A>T

1 paper

NM_024675.4

p.E42E

c.126A>G

1 paper

NM_024675.4

p.E42D

c.126A>C

1 paper

NM_024675.4

p.E42fs

c.124_125fs