Varaico: Literature-Extracted Genetic Variants

Gene:TTC3
Variant:p.F994V

TTC3

121 papers

Pfam Domains

TTC3_DZIP3_domaa 622–737UCSCE3 ubiquitin-protein ligase TTC3/DZIP3 domain
WHD_TTC3aa 1067–1191UCSCTTC3-like, winged helix turn helix domain
TTC3aa 1486–1735UCSCTTC3, helical domain
TTC3_9thaa 1843–1902UCSCTTC3, helical domain
zf-RING_2aa 1955–1997UCSCRing finger domain

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 3

HGNC Alias Symbols

TPRD; TPRDI; DCRR1; TPRDII; TPRDIII; RNF105

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001330683.2
p.F994V
c.2980T>G
Surrounding Variants
1 paper
NM_001330683.2
p.S961S
c.2883T>A
1 paper
NM_001330683.2
p.D998Splc
c.2992+274G>A
1 paper
NM_001330683.2
p.A905T
c.2713G>A
1 paper
NM_001330683.2
p.N881K
c.2643T>A
1 paper
NM_001330683.2
p.N881K
c.2643T>G
1 paper
NM_001330683.2
p.R875C
c.2623C>T
1 paper
NM_001330683.2
p.T858I
c.2573C>T
1 paper
NM_001330683.2
p.W848C
c.2544G>C
1 paper
NM_001330683.2
p.W848C
c.2544G>T
1 paper
NM_001330683.2
p.M840T
c.2519T>C
1 paper
NM_001330683.2
p.S833F
c.2498C>T
1 paper
NM_001330683.2
p.D829Y
c.2485G>T
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