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.F1181fs

c.3541_3542fs

Surrounding Variants

3 papers

NM_024675.4

p.F1181delFs

c.3543delA

1 paper

NM_024675.4

p.V1182A

c.3545T>C

2 papers

NM_024675.4

p.I1180M

c.3540A>G

1 paper

NM_024675.4

p.V1182V

c.3546A>G

2 papers

NM_024675.4

p.Y1183D

c.3547T>G

6 papers

NM_024675.4

p.I1180T

c.3539T>C

2 papers

NM_024675.4

p.Y1183C

c.3548A>G

1 paper

NM_024675.4

p.N1179N

c.3537T>C

2 papers

NM_024675.4

p.Y1183Y

c.3549C>T

92 papers

NM_024675.4

p.Y1183*

c.3549C>G

85 papers

NM_024675.4

p.Y1183*

c.3549C>A

1 paper

NM_024675.4

p.V1182delFs

c.3545_3546delTA