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

2 papers

NM_024675.4

p.H913R

c.2738A>G

Surrounding Variants

1 paper

NM_024675.4

p.H913L

c.2738A>T

1 paper

NM_024675.4

p.H913P

c.2738A>C

2 papers

NM_024675.4

p.H913Y

c.2737C>T

2 papers

NM_024675.4

p.H913D

c.2737C>G

1 paper

NM_024675.4

p.H913Q

c.2739C>G

1 paper

NM_024675.4

p.H913Q

c.2739C>A

1 paper

NM_024675.4

p.H913N

c.2737C>A

1 paper

NM_024675.4

p.F914V

c.2740T>G

2 papers

NM_024675.4

p.F914L

c.2740T>C

1 paper

NM_024675.4

p.F914I

c.2740T>A

2 papers

NM_024675.4

p.W912C

c.2736G>T

2 papers

NM_024675.4

p.W912C

c.2736G>C