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.F1118fs

c.3352_3353fs

Surrounding Variants

3 papers

NM_024675.4

p.R1117Splc

c.3351-1G>C

8 papers

NM_024675.4

p.R1117K

c.3350G>A

1 paper

NM_024675.4

p.F1118fs

c.3352_3353fs

1 paper

NM_024675.4

p.L1119L

c.3355C>T

1 paper

NM_024675.4

p.L1119V

c.3355C>G

1 paper

NM_024675.4

p.L1119M

c.3355C>A

1 paper

NM_024675.4

p.R1117Splc

c.3351-2A>T

1 paper

NM_024675.4

p.R1117Splc

c.3351-2A>G

7 papers

NM_024675.4

p.L1119P

c.3356T>C

1 paper

NM_024675.4

p.R1117Splc

c.3351-4T>C

1 paper

NM_024675.4

p.L1119L

c.3357G>A

1 paper

NM_024675.4

p.E1120*

c.3358G>T