Varaico: Literature-Extracted Genetic Variants

ZNF215

41 papers

RefSeq Summary

This gene is imprinted in a tissue-specific manner with preferential expression in the testis, and encodes a zinc finger protein that belongs to a family of zinc finger transcription factors. The enco...

Pfam Domains

SCANaa 44–133UCSCSCAN domain

KRABaa 163–203UCSCKRAB box

zf-C2H2aa 379–401UCSCZinc finger, C2H2 type

zf-C2H2aa 407–429UCSCZinc finger, C2H2 type

zf-C2H2aa 462–484UCSCZinc finger, C2H2 type

zf-C2H2aa 490–512UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 215

HGNC Alias Symbols

ZKSCAN11; ZSCAN43

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_013250.4

p.D238Splc

c.712+1G>A

Surrounding Variants

1 paper

NM_013250.4

p.S215I

c.644G>T

1 paper

NM_013250.4

p.R204H

c.611G>A

1 paper

NM_013250.4

p.V192V

c.576G>C

1 paper

NM_013250.4

p.E172*

c.514G>T

1 paper

NM_013250.4

p.K150E

c.448A>G

1 paper

NM_013250.4

p.K148M

c.443A>T

1 paper

NM_013250.4

p.K148E

c.442A>G

1 paper

NM_013250.4

p.D238Splc

c.713-3188C>A