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.L206P

c.617T>C

Surrounding Variants

1 paper

NM_024675.4

p.L206R

c.617T>G

2 papers

NM_024675.4

p.L206L

c.618T>G

1 paper

NM_024675.4

p.L206L

c.618T>A

1 paper

NM_024675.4

p.L206F

c.616C>T

1 paper

NM_024675.4

p.E205insFs

c.614dupA

1 paper

NM_024675.4

p.L206I

c.616C>A

1 paper

NM_024675.4

p.P207S

c.619C>T

1 paper

NM_024675.4

p.P207T

c.619C>A

1 paper

NM_024675.4

p.E205D

c.615A>T

2 papers

NM_024675.4

p.E205E

c.615A>G

1 paper

NM_024675.4

p.E205D

c.615A>C

3 papers

NM_024675.4

p.P207L

c.620C>T