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.K68I

c.203A>T

Surrounding Variants

1 paper

NM_024675.4

p.K68R

c.203A>G

1 paper

NM_024675.4

p.K68T

c.203A>C

1 paper

NM_024675.4

p.K68N

c.204A>T

2 papers

NM_024675.4

p.K68E

c.202A>G

1 paper

NM_024675.4

p.K68N

c.204A>C

1 paper

NM_024675.4

p.K68Q

c.202A>C

2 papers

NM_024675.4

p.S64_L67del4

c.190_200del12

1 paper

NM_024675.4

p.K68fs

c.202_203fs

3 papers

NM_024675.4

p.H69Y

c.205C>T

1 paper

NM_024675.4

p.H69D

c.205C>G

1 paper

NM_024675.4

p.H69N

c.205C>A

2 papers

NM_024675.4

p.K68delFs

c.204delT