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

2 papers

NM_024675.4

p.P735Q

c.2204C>A

Surrounding Variants

3 papers

NM_024675.4

p.P735L

c.2204C>T

1 paper

NM_024675.4

p.P735S

c.2203C>T

3 papers

NM_024675.4

p.P735P

c.2205A>G

1 paper

NM_024675.4

p.T734T

c.2202T>G

1 paper

NM_024675.4

p.T734T

c.2202T>C

1 paper

NM_024675.4

p.P735delFs

c.2205delT

1 paper

NM_024675.4

p.A736fs

c.2206_2207fs

10 papers

NM_024675.4

p.T734S

c.2201C>G

6 papers

NM_024675.4

p.T734N

c.2201C>A

2 papers

NM_024675.4

p.A736D

c.2207C>A

1 paper

NM_024675.4

p.I730_T733del4

c.2188_2198del12

1 paper

NM_024675.4

p.A736A

c.2208C>T