Varaico: Literature-Extracted Genetic Variants

ZNF180

21 papers

RefSeq Summary

Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned ...

Pfam Domains

KRABaa 71–112UCSCKRAB box

zf-C2H2aa 353–375UCSCZinc finger, C2H2 type

zf-C2H2aa 381–403UCSCZinc finger, C2H2 type

zf-C2H2aa 409–431UCSCZinc finger, C2H2 type

zf-C2H2aa 437–459UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 180

HGNC Alias Symbol

HHZ168

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001278508.4

p.S247C

c.740C>G

NM_001278509.3

p.S245C

c.734C>G

Surrounding Variants

1 paper

NM_001278509.3

p.D243H

c.727G>C

1 paper

NM_001278509.3

p.L283F

c.849G>T

1 paper

NM_001278509.3

p.L283F

c.849G>C

1 paper

NM_001278509.3

p.H289R

c.866A>G

1 paper

NM_001278509.3

p.H193L

c.578A>T

1 paper

NM_001278509.3

p.E298*

c.892G>T

1 paper

NM_001278509.3

p.S300G

c.898A>G

1 paper

NM_001278509.3

p.Q301*

c.901C>T

1 paper

NM_001278509.3

p.C331Y

c.992G>A

1 paper

NM_001278509.3

p.S366R

c.1096A>C

1 paper

NM_001278509.3

p.S366R

c.1098C>G

1 paper

NM_001278509.3

p.S366R

c.1098C>A