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.G112V

c.335G>T

Surrounding Variants

2 papers

NM_024675.4

p.G112A

c.335G>C

1 paper

NM_024675.4

p.G112D

c.335G>A

1 paper

NM_024675.4

p.G112C

c.334G>T

1 paper

NM_024675.4

p.G112R

c.334G>C

2 papers

NM_024675.4

p.G112S

c.334G>A

1 paper

NM_024675.4

p.G112G

c.336C>T

1 paper

NM_024675.4

p.G112G

c.336C>G

1 paper

NM_024675.4

p.G112fs

c.334_335fs

1 paper

NM_024675.4

p.G112G

c.336C>A

1 paper

NM_024675.4

p.D111E

c.333T>G

1 paper

NM_024675.4

p.D111D

c.333T>C

1 paper

NM_024675.4

p.D111E

c.333T>A