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

1 paper

NM_020832.3

p.H165Y

c.493C>T

Surrounding Variants

1 paper

NM_020832.3

p.E155K

c.463G>A

1 paper

NM_020832.3

p.R186W

c.556C>T

1 paper

NM_020832.3

p.G116R

c.346G>C

1 paper

NM_020832.3

p.V112A

c.335T>C

1 paper

NM_020832.3

p.V112I

c.334G>A

2 papers

NM_020832.3

p.Q108delFs

c.324delG

1 paper

NM_020832.3

p.T89A

c.265A>G

6 papers

NM_020832.3

p.S242I

c.725G>T

1 paper

NM_020832.3

p.G259E

c.776G>A

1 paper

NM_020832.3

p.F263del1

c.787_789delTTC

1 paper

NM_020832.3

p.P267Q

c.800C>A

1 paper

NM_020832.3

p.A56S

c.166G>T