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

1–12 of 113 variants

17 papers

NM_020832.3

p.P937R

c.2810C>G

6 papers

NM_020832.3

p.S242I

c.725G>T

4 papers

NM_020832.3

p.R331W

c.991C>T

4 papers

NM_020832.3

p.P665L

c.1994C>T

4 papers

NM_020832.3

p.Q784E

c.2350C>G

2 papers

NM_020832.3

p.Q108delFs

c.324delG

2 papers

NM_020832.3

p.E381Q

c.1141G>C

2 papers

NM_020832.3

p.T562_N564delFs

c.1684_1690del7

2 papers

NM_020832.3

p.H733delFs

c.2197delC

2 papers

NM_020832.3

p.N741S

c.2222A>G

2 papers

NM_020832.3

p.P938R

c.2813C>G

2 papers

NM_020832.3

p.R939C

c.2815C>T