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.P113Q

c.338C>A

Surrounding Variants

1 paper

NM_024675.4

p.P113L

c.338C>T

3 papers

NM_024675.4

p.P113R

c.338C>G

1 paper

NM_024675.4

p.G112_P113ins0

c.335_337dupGCC

1 paper

NM_024675.4

p.P113S

c.337C>T

3 papers

NM_024675.4

p.P113A

c.337C>G

1 paper

NM_024675.4

p.P113ins1

c.337_338insGTC

1 paper

NM_024675.4

p.P113T

c.337C>A

3 papers

NM_024675.4

p.G112_P113Fs

c.336_337delinsAFs

1 paper

NM_024675.4

p.P113P

c.339A>T

1 paper

NM_024675.4

p.P113P

c.339A>C

1 paper

NM_024675.4

p.P113fs

c.337_338fs

3 papers

NM_024675.4

p.P113delFs

c.338delG