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.Q60L

c.179A>T

Surrounding Variants

5 papers

NM_024675.4

p.Q60R

c.179A>G

1 paper

NM_024675.4

p.Q60P

c.179A>C

1 paper

NM_024675.4

p.Q60H

c.180G>T

14 papers

NM_024675.4

p.Q60fs

c.178_179fs

1 paper

NM_024675.4

p.Q60H

c.180G>C

1 paper

NM_024675.4

p.Q60Q

c.180G>A

39 papers

NM_024675.4

p.Q60fs

c.178_179fs

1 paper

NM_024675.4

p.E54_Q60del0

c.162_179del18

6 papers

NM_024675.4

p.Q60*

c.178C>T

1 paper

NM_024675.4

p.Q60E

c.178C>G

1 paper

NM_024675.4

p.Q60K

c.178C>A

1 paper

NM_024675.4

p.L58_S59del2

c.172_176del6