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.Q958L

c.2873A>T

Surrounding Variants

2 papers

NM_024675.4

p.Q958R

c.2873A>G

3 papers

NM_024675.4

p.Q958P

c.2873A>C

1 paper

NM_024675.4

p.Q958*

c.2872C>T

2 papers

NM_024675.4

p.Q958E

c.2872C>G

1 paper

NM_024675.4

p.Q958K

c.2872C>A

1 paper

NM_024675.4

p.Q958H

c.2874A>T

1 paper

NM_024675.4

p.Q958Q

c.2874A>G

1 paper

NM_024675.4

p.Q958H

c.2874A>C

3 papers

NM_024675.4

p.Q958fs

c.2872_2873fs

1 paper

NM_024675.4

p.V959L

c.2875G>T

1 paper

NM_024675.4

p.V959L

c.2875G>C

1 paper

NM_024675.4

p.V959I

c.2875G>A