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.K43M

c.128A>T

Surrounding Variants

4 papers

NM_024675.4

p.K43R

c.128A>G

1 paper

NM_024675.4

p.K43T

c.128A>C

2 papers

NM_024675.4

p.K43N

c.129G>T

1 paper

NM_024675.4

p.K43insFs

c.128_129insA

3 papers

NM_024675.4

p.K43N

c.129G>C

1 paper

NM_024675.4

p.K43K

c.129G>A

1 paper

NM_024675.4

p.K43*

c.127A>T

4 papers

NM_024675.4

p.K43E

c.127A>G

1 paper

NM_024675.4

p.K43Q

c.127A>C

6 papers

NM_024675.4

p.E42D

c.126A>T

1 paper

NM_024675.4

p.I44V

c.130A>G

1 paper

NM_024675.4

p.E42E

c.126A>G