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.S70A

c.208T>G

Surrounding Variants

1 paper

NM_024675.4

p.S70_E71insGT

c.208_212ins6

1 paper

NM_024675.4

p.S70_E71ins16

c.208_212ins48

1 paper

NM_024675.4

p.S70P

c.208T>C

1 paper

NM_024675.4

p.S70T

c.208T>A

7 papers

NM_024675.4

p.K68_H69del2

c.202_206del6

1 paper

NM_024675.4

p.L67_H69del0

c.199_207del9

2 papers

NM_024675.4

p.S70L

c.209C>T

2 papers

NM_024675.4

p.H69H

c.207C>T

2 papers

NM_024675.4

p.S70*

c.209C>G

1 paper

NM_024675.4

p.H69Q

c.207C>G

2 papers

NM_024675.4

p.S70*

c.209C>A

1 paper

NM_024675.4

p.H69Q

c.207C>A