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

1–12 of 26 variants

4 papers

NM_001278509.3

p.V14A

c.41T>C

4 papers

NM_001278509.3

p.C62W

c.186C>G

4 papers

NM_001278509.3

p.S245C

c.734C>G

1 paper

NM_001278508.4

p.V41A

c.122T>C

1 paper

NM_013256.7

p.Q44_D45Splc

c.133-24T>A

1 paper

NM_001278509.3

p.K28R

c.83A>G

1 paper

NM_001278509.3

p.E30K

c.88G>A

1 paper

NM_001278509.3

p.S36F

c.107C>T

1 paper

NM_001278509.3

p.S41F

c.122C>T

1 paper

NM_001278508.4

p.C64W

c.192C>G

1 paper

NM_001278509.3

p.Q66*

c.196C>T

1 paper

NM_001278509.3

p.H193L

c.578A>T