Varaico: Literature-Extracted Genetic Variants

ZNF383

19 papers

RefSeq Summary

The protein encoded by this gene is a KRAB-related zinc finger protein that inhibits the transcription of some MAPK signaling pathway genes. The repressor activity resides in the KRAB domain of the en...

Pfam Domains

KRABaa 5–46UCSCKRAB box

zf-C2H2aa 170–192UCSCZinc finger, C2H2 type

zf-C2H2aa 226–248UCSCZinc finger, C2H2 type

zf-C2H2aa 254–276UCSCZinc finger, C2H2 type

zf-C2H2aa 282–304UCSCZinc finger, C2H2 type

zf-C2H2aa 310–332UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 383

HGNC Alias Symbols

FLJ35863; Zfp383

Papers

RefSeq ID

Protein change

DNA change

1–12 of 19 variants

1 paper

NM_001387601.1

p.E19Q

c.55G>C

1 paper

NM_001387601.1

p.G46*

c.136G>T

1 paper

NM_001387601.1

p.G46Splc

c.136+9A>T

1 paper

NM_001387601.1

p.G46Splc

c.137-7T>C

1 paper

NM_001387601.1

p.S81W

c.242C>G

1 paper

NM_001387601.1

p.K91M

c.272A>T

1 paper

NM_001387601.1

p.R124G

c.370A>G

1 paper

NM_001387601.1

p.N164S

c.491A>G

1 paper

NM_001387601.1

p.G260A

c.779G>C

1 paper

NM_001387601.1

p.Q273E

c.817C>G

1 paper

NM_001387601.1

p.R274R

c.820C>A

1 paper

NM_001387601.1

p.Q327H

c.981A>C