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.L171L

c.511T>C

Surrounding Variants

1 paper

NM_024675.4

p.L171V

c.511T>G

1 paper

NM_024675.4

p.L171M

c.511T>A

140 papers

NM_024675.4

p.R170delFs

c.509_510delTC

1 paper

NM_024675.4

p.R170del1

c.508_509delTCT

1 paper

NM_024675.4

p.L171W

c.512T>G

1 paper

NM_024675.4

p.L171S

c.512T>C

1 paper

NM_024675.4

p.L171*

c.512T>A

1 paper

NM_024675.4

p.R170S

c.510A>T

1 paper

NM_024675.4

p.R170R

c.510A>G

1 paper

NM_024675.4

p.R170S

c.510A>C

45 papers

NM_024675.4

p.R170fs

c.508_509fs

4 papers

NM_024675.4

p.R170I

c.509G>T