Varaico: Literature-Extracted Genetic Variants

ZNF398

175 papers

RefSeq Summary

This gene encodes a member of the Kruppel family of C2H2-type zinc-finger transcription factor proteins. The encoded protein acts as a transcriptional activator. Two transcript variants encoding disti...

Pfam Domains

KRABaa 142–183UCSCKRAB box

zf-C2HC_2aa 398–419UCSCzinc-finger of a C2HC-type

zf-C2H2aa 427–449UCSCZinc finger, C2H2 type

zf-C2H2aa 455–477UCSCZinc finger, C2H2 type

zf-C2H2aa 483–505UCSCZinc finger, C2H2 type

zf-C2H2aa 511–533UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 398

HGNC Alias Symbols

ZER6; KIAA1339; P51; P71

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_170686.3

p.R112P

c.335G>C

Surrounding Variants

1 paper

NM_170686.3

p.R111_L113delFs

c.332_339del8

1 paper

NM_170686.3

p.E114K

c.340G>A

1 paper

NM_170686.3

p.Q110*

c.328C>T

1 paper

NM_170686.3

p.N115D

c.343A>G

1 paper

NM_170686.3

p.L108M

c.322C>A

1 paper

NM_170686.3

p.G107A

c.320G>C

1 paper

NM_170686.3

p.E105A

c.314A>C

1 paper

NM_170686.3

p.E105_Y106delFs

c.315_318del4

1 paper

NM_170686.3

p.R121C

c.361C>T

1 paper

NM_170686.3

p.L99Q

c.296T>A

1 paper

NM_170686.3

p.L99P

c.296T>C

1 paper

NM_170686.3

p.F125L

c.375C>G