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.D161N

c.481G>A

Surrounding Variants

1 paper

NM_024675.4

p.D161Y

c.481G>T

4 papers

NM_024675.4

p.D161H

c.481G>C

2 papers

NM_024675.4

p.D161fs

c.481_482fs

1 paper

NM_024675.4

p.D161V

c.482A>T

1 paper

NM_024675.4

p.R160S

c.480A>T

3 papers

NM_024675.4

p.R160R

c.480A>G

1 paper

NM_024675.4

p.D161G

c.482A>G

1 paper

NM_024675.4

p.D161A

c.482A>C

1 paper

NM_024675.4

p.R160S

c.480A>C

2 papers

NM_024675.4

p.R160I

c.479G>T

2 papers

NM_024675.4

p.R160T

c.479G>C

1 paper

NM_024675.4

p.R160K

c.479G>A