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.S59S

c.177T>C

Surrounding Variants

1 paper

NM_024675.4

p.S59S

c.177T>A

39 papers

NM_024675.4

p.Q60fs

c.178_179fs

6 papers

NM_024675.4

p.Q60*

c.178C>T

2 papers

NM_024675.4

p.S59F

c.176C>T

1 paper

NM_024675.4

p.Q60E

c.178C>G

1 paper

NM_024675.4

p.S59C

c.176C>G

1 paper

NM_024675.4

p.Q60K

c.178C>A

1 paper

NM_024675.4

p.S59Y

c.176C>A

118 papers

NM_024675.4

p.L58_S59delFs

c.172_175del4

1 paper

NM_024675.4

p.C57_L58del2

c.169_173del6

1 paper

NM_024675.4

p.D56_S59delFs

c.168_175del8

1 paper

NM_024675.4

p.L58_S59del2

c.172_176del6