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.E884D

c.2652G>C

Surrounding Variants

4 papers

NM_024675.4

p.E884D

c.2652G>T

2 papers

NM_024675.4

p.E884E

c.2652G>A

2 papers

NM_024675.4

p.P885S

c.2653C>T

1 paper

NM_024675.4

p.P885A

c.2653C>G

1 paper

NM_024675.4

p.P885T

c.2653C>A

1 paper

NM_024675.4

p.E884V

c.2651A>T

1 paper

NM_024675.4

p.E884G

c.2651A>G

1 paper

NM_024675.4

p.E884A

c.2651A>C

1 paper

NM_024675.4

p.P885fs

c.2653_2654fs

3 papers

NM_024675.4

p.E884*

c.2650G>T

1 paper

NM_024675.4

p.E884Q

c.2650G>C

1 paper

NM_024675.4

p.E884K

c.2650G>A