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.Q692Q

c.2076G>A

Surrounding Variants

1 paper

NM_024675.4

p.Q692delFs

c.2075_2076delCT

1 paper

NM_024675.4

p.Q692L

c.2075A>T

8 papers

NM_024675.4

p.Q692*

c.2074C>T

1 paper

NM_024675.4

p.H693R

c.2078A>G

1 paper

NM_024675.4

p.H693H

c.2079T>C

1 paper

NM_024675.4

p.S691N

c.2072G>A

1 paper

NM_024675.4

p.S691delFs

c.2071delT

1 paper

NM_024675.4

p.H693delFs

c.2079delA

1 paper

NM_024675.4

p.T694insFs

c.2080_2081insA

2 papers

NM_024675.4

p.T694T

c.2082A>G

2 papers

NM_024675.4

p.K695*

c.2083A>T

1 paper

NM_024675.4

p.T694delFs

c.2081_2082delTG