Varaico: Literature-Extracted Genetic Variants

Gene:DZIP3
Variant:p.Q1090_S1091insFs

DZIP3

55 papers

Pfam Domains

TTC3_DZIP3_domaa 223–336UCSCE3 ubiquitin-protein ligase TTC3/DZIP3 domain
HEPN_DZIP3aa 418–563UCSCDZIP3/ hRUL138-like HEPN
TTC3aa 765–957UCSCTTC3, helical domain
TTC3_9thaa 1033–1092UCSCTTC3, helical domain
zf-RING_2aa 1146–1188UCSCRing finger domain

Gene Aliases

HGNC Name

DAZ interacting zinc finger protein 3

HGNC Alias Symbols

hRUL138; PPP1R66

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014648.4
p.Q1090_S1091insFs
c.3270_3271insA
Surrounding Variants
1 paper
NM_014648.4
p.Q1090fs
c.3268_3269fs
1 paper
NM_014648.4
p.W1121R
c.3361T>A
1 paper
NM_014648.4
p.W1121R
c.3361T>C
1 paper
NM_014648.4
p.E1144D
c.3432A>C
2 papers
NM_014648.4
p.L1163fs
c.3487_3488fs
1 paper
NM_014648.4
p.Q1172P
c.3515A>C
1 paper
NM_014648.4
p.R1026Q
c.3077G>A
1 paper
NM_014648.4
p.D1017D
c.3051C>T
1 paper
NM_014648.4
p.A1008P
c.3022G>C
2 papers
NM_014648.4
p.C1187S
c.3559T>A
2 papers
NM_014648.4
p.C1187S
c.3560G>C
1 paper
NM_014648.4
p.Q1204*
c.3610C>T
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