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.E381Q

c.1141G>C

Surrounding Variants

1 paper

NM_020832.3

p.D392N

c.1174G>A

1 paper

NM_020832.3

p.E361insFs

c.1083dupG

1 paper

NM_020832.3

p.E361fs

c.1081_1082fs

1 paper

NM_020832.3

p.A360V

c.1079C>T

1 paper

NM_020832.3

p.A357V

c.1070C>T

1 paper

NM_020832.3

p.T405T

c.1215C>T

1 paper

NM_020832.3

p.R421C

c.1261C>T

1 paper

NM_020832.3

p.R331Q

c.992G>A

4 papers

NM_020832.3

p.R331W

c.991C>T

1 paper

NM_020832.3

p.S433N

c.1298G>A

1 paper

NM_020832.3

p.P434S

c.1300C>T

1 paper

NM_020832.3

p.K439*

c.1315A>T