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.T610T

c.1830A>G

Surrounding Variants

1 paper

NM_024675.4

p.D611Y

c.1831G>T

1 paper

NM_024675.4

p.D611Fs

c.1831delinsTTFs

1 paper

NM_024675.4

p.D611N

c.1831G>A

1 paper

NM_024675.4

p.T610S

c.1828A>T

1 paper

NM_024675.4

p.D611insFs

c.1831dupG

1 paper

NM_024675.4

p.S608_D611insFs

c.1824_1831dup8

3 papers

NM_024675.4

p.D611D

c.1833C>T

2 papers

NM_024675.4

p.S608R

c.1824T>G

2 papers

NM_024675.4

p.S608R

c.1824T>A

1 paper

NM_024675.4

p.S608I

c.1823G>T

1 paper

NM_024675.4

p.S608T

c.1823G>C

1 paper

NM_024675.4

p.S608N

c.1823G>A