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.I887I

c.2661C>T

Surrounding Variants

1 paper

NM_024675.4

p.I887M

c.2661C>G

2 papers

NM_024675.4

p.I887fs

c.2659_2660fs

2 papers

NM_024675.4

p.I887I

c.2661C>A

2 papers

NM_024675.4

p.I887delFs

c.2659_2660delAT

4 papers

NM_024675.4

p.I887S

c.2660T>G

1 paper

NM_024675.4

p.I887T

c.2660T>C

1 paper

NM_024675.4

p.I887N

c.2660T>A

1 paper

NM_024675.4

p.I888L

c.2662A>T

3 papers

NM_024675.4

p.I888V

c.2662A>G

1 paper

NM_024675.4

p.I888L

c.2662A>C

1 paper

NM_024675.4

p.C886_I887insFs

c.2658_2661dup4

1 paper

NM_024675.4

p.I888R

c.2663T>G