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.T1012S

c.3034A>T

Surrounding Variants

1 paper

NM_024675.4

p.E1011del1

c.3031_3033delCTC

1 paper

NM_024675.4

p.E1011_T1012ins2

c.3033_3034ins6

9 papers

NM_024675.4

p.T1012I

c.3035C>T

1 paper

NM_024675.4

p.T1012S

c.3035C>G

1 paper

NM_024675.4

p.T1012ins2

c.3034_3035ins6

1 paper

NM_024675.4

p.T1012T

c.3036T>G

1 paper

NM_024675.4

p.E1011*

c.3031G>T

1 paper

NM_024675.4

p.I1013V

c.3037A>G

1 paper

NM_024675.4

p.I1013T

c.3038T>C

1 paper

NM_024675.4

p.I1013K

c.3038T>A

2 papers

NM_024675.4

p.E1010fs

c.3028_3029fs

1 paper

NM_024675.4

p.E1010E

c.3030G>A