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.G1076S

c.3226G>A

Surrounding Variants

1 paper

NM_020832.3

p.S1085S

c.3255T>C

1 paper

NM_020832.3

p.S1099Y

c.3296C>A

1 paper

NM_020832.3

p.G1108D

c.3323G>A

1 paper

NM_020832.3

p.R1113C

c.3337C>T

1 paper

NM_020832.3

p.R1060W

c.3178C>T

1 paper

NM_020832.3

p.C1140Y

c.3419G>A

1 paper

NM_020832.3

p.L1142S

c.3425T>C

2 papers

NM_020832.3

p.R1152Q

c.3455G>A

1 paper

NM_020832.3

p.V1045L

c.3133G>C

1 paper

NM_020832.3

p.T1034I

c.3101C>T

1 paper

NM_020832.3

p.L1213V

c.3637C>G

1 paper

NM_020832.3

p.L1215P

c.3644T>C