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.W877C

c.2631G>C

Surrounding Variants

2 papers

NM_024675.4

p.W877C

c.2631G>T

6 papers

NM_024675.4

p.W877*

c.2631G>A

1 paper

NM_024675.4

p.E878*

c.2632G>T

1 paper

NM_024675.4

p.W877L

c.2630G>T

1 paper

NM_024675.4

p.W877insFs

c.2629dupT

1 paper

NM_024675.4

p.E878Q

c.2632G>C

1 paper

NM_024675.4

p.W877S

c.2630G>C

6 papers

NM_024675.4

p.W877*

c.2630G>A

1 paper

NM_024675.4

p.E878K

c.2632G>A

3 papers

NM_024675.4

p.W877delFs

c.2629delA

1 paper

NM_024675.4

p.W877G

c.2629T>G

3 papers

NM_024675.4

p.W877R

c.2629T>C