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.K439*

c.1315A>T

Surrounding Variants

1 paper

NM_020832.3

p.P434S

c.1300C>T

1 paper

NM_020832.3

p.S433N

c.1298G>A

1 paper

NM_020832.3

p.R421C

c.1261C>T

1 paper

NM_020832.3

p.S469L

c.1406C>T

1 paper

NM_020832.3

p.T405T

c.1215C>T

1 paper

NM_020832.3

p.Q474*

c.1420C>T

1 paper

NM_020832.3

p.D392N

c.1174G>A

1 paper

NM_020832.3

p.G487S

c.1459G>A

1 paper

NM_020832.3

p.S491P

c.1471T>C

2 papers

NM_020832.3

p.E381Q

c.1141G>C

1 paper

NM_020832.3

p.V498M

c.1492G>A

1 paper

NM_020832.3

p.E361insFs

c.1083dupG