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.Q139R

c.416A>G

Surrounding Variants

1 paper

NM_024675.4

p.Q139L

c.416A>T

1 paper

NM_024675.4

p.Q139P

c.416A>C

1 paper

NM_024675.4

p.Q139*

c.415C>T

1 paper

NM_024675.4

p.Q139E

c.415C>G

1 paper

NM_024675.4

p.Q139K

c.415C>A

1 paper

NM_024675.4

p.Q139H

c.417A>T

1 paper

NM_024675.4

p.Q139H

c.417A>C

1 paper

NM_024675.4

p.E138D

c.414G>T

2 papers

NM_024675.4

p.E138D

c.414G>C

2 papers

NM_024675.4

p.K140fs

c.418_419fs

1 paper

NM_024675.4

p.K140E

c.418A>G

1 paper

NM_024675.4

p.K140Q

c.418A>C