Varaico: Literature-Extracted Genetic Variants

Gene:SP9
Variant:p.A430V

SP9

51 papers

Pfam Domains

zf-C2H2aa 332–356UCSCZinc finger, C2H2 type
zf-C2H2aa 362–386UCSCZinc finger, C2H2 type
zf-C2H2aa 392–414UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

Sp9 transcription factor

HGNC Alias Symbol

ZNF990

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001145250.2
p.A430V
c.1289C>T
Surrounding Variants
1 paper
NM_001145250.2
p.H414delins
c.1242delinsT
1 paper
NM_001145250.2
p.H414Fs
c.1240_1242delinsTFs
1 paper
NM_001145250.2
p.K412K
c.1236G>A
3 papers
NM_001145250.2
p.A462_A467del0
c.1386_1400del15
1 paper
NM_001145250.2
p.H406fs
c.1216_1217fs
1 paper
NM_001145250.2
p.H406fs
c.1216_1217fs
1 paper
NM_001145250.2
p.H406delFs
c.1216delC
3 papers
NM_001145250.2
p.A458_A465del0
c.1372_1395del24
1 paper
NM_001145250.2
p.R403fs
c.1207_1208fs
1 paper
NM_001145250.2
p.A460V
c.1379C>T
1 paper
NM_001145250.2
p.A461V
c.1382C>T
1 paper
NM_001145250.2
p.A462_A463ins5
c.1386_1387ins15
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