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.R147G

c.439A>G

Surrounding Variants

1 paper

NM_024675.4

p.R147I

c.440G>T

1 paper

NM_024675.4

p.R147T

c.440G>C

1 paper

NM_024675.4

p.R147K

c.440G>A

2 papers

NM_024675.4

p.R146S

c.438A>T

2 papers

NM_024675.4

p.R146S

c.438A>C

1 paper

NM_024675.4

p.R146I

c.437G>T

1 paper

NM_024675.4

p.R146T

c.437G>C

1 paper

NM_024675.4

p.R146K

c.437G>A

1 paper

NM_024675.4

p.R147S

c.441A>T

1 paper

NM_024675.4

p.R147R

c.441A>G

1 paper

NM_024675.4

p.R147S

c.441A>C

1 paper

NM_024675.4

p.L143_R147insFs

c.427_440dup14