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.H733delFs

c.2197delC

Surrounding Variants

1 paper

NM_020832.3

p.R730delFs

c.2190delA

1 paper

NM_020832.3

p.R730fs

c.2188_2189fs

1 paper

NM_020832.3

p.H733fs

c.2197_2198fs

1 paper

NM_020832.3

p.H733fs

c.2197_2198fs

1 paper

NM_020832.3

p.R725C

c.2173C>T

2 papers

NM_020832.3

p.N741S

c.2222A>G

1 paper

NM_020832.3

p.M712I

c.2136G>A

1 paper

NM_020832.3

p.M712I

c.2136G>C

1 paper

NM_020832.3

p.M712I

c.2136G>T

1 paper

NM_020832.3

p.R760C

c.2278C>T

4 papers

NM_020832.3

p.P665L

c.1994C>T

1 paper

NM_020832.3

p.L657F

c.1969C>T