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.A830T

c.2488G>A

Surrounding Variants

1 paper

NM_020832.3

p.M831I

c.2493G>A

1 paper

NM_020832.3

p.F858C

c.2573T>G

1 paper

NM_020832.3

p.T872fs

c.2614_2615fs

1 paper

NM_020832.3

p.T872N

c.2615C>A

1 paper

NM_020832.3

p.H876R

c.2627A>G

1 paper

NM_020832.3

p.H808H

c.2424T>C

4 papers

NM_020832.3

p.Q784E

c.2350C>G

1 paper

NM_020832.3

p.I779M

c.2337C>G

1 paper

NM_020832.3

p.G775S

c.2323G>A

1 paper

NM_020832.3

p.C769S

c.2306G>C

1 paper

NM_020832.3

p.C769S

c.2305T>A

1 paper

NM_020832.3

p.R885H

c.2654G>A