Varaico: Literature-Extracted Genetic Variants

ZNF687

101 papers

RefSeq Summary

This gene encodes C2H2 zinc finger protein. The encoded protein may play a role in bone differentiation and development. Mutations in this gene are the cause of Paget disease of bone-6. Alternate spli...

Pfam Domains

zf-C2H2_ZNF592aa 555–599UCSCZNF592-like C2H2 zinc finger

zf-C2H2aa 993–1016UCSCZinc finger, C2H2 type

zf-C2H2_11aa 1131–1159UCSCzinc-finger C2H2-type

zf-C2H2aa 1200–1222UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 687

HGNC Alias Symbol

KIAA1441

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_020832.3

p.P938R

c.2813C>G

Surrounding Variants

2 papers

NM_020832.3

p.R939C

c.2815C>T

1 paper

NM_020832.3

p.P937H

c.2810C>A

17 papers

NM_020832.3

p.P937R

c.2810C>G

1 paper

NM_020832.3

p.S933N

c.2798G>A

1 paper

NM_020832.3

p.V931L

c.2791G>C

1 paper

NM_020832.3

p.V931L

c.2791G>T

1 paper

NM_020832.3

p.E921*

c.2761G>T

1 paper

NM_020832.3

p.G957fs

c.2869_2870fs

1 paper

NM_020832.3

p.G958insFs

c.2872dupG

1 paper

NM_020832.3

p.P960fs

c.2878_2879fs

1 paper

NM_020832.3

p.E907D

c.2721G>C

1 paper

NM_020832.3

p.E907D

c.2721G>T