Varaico: Literature-Extracted Genetic Variants

Gene:TTC3
Variant:p.E1650D

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.E1650D
c.4950G>T
Surrounding Variants
1 paper
NM_001330683.2
p.E1650D
c.4950G>C
1 paper
NM_001330683.2
p.V1642G
c.4925T>G
1 paper
NM_001330683.2
p.E1621Q
c.4861G>C
1 paper
NM_001330683.2
p.W1690R
c.5068T>A
1 paper
NM_001330683.2
p.W1690R
c.5068T>C
3 papers
NM_001330683.2
p.K1705K
c.5115G>A
1 paper
NM_001330683.2
p.A1583fs
c.4747_4748fs
1 paper
NM_001330683.2
p.A1583insFs
c.4747_4748insAG
1 paper
NM_001330683.2
p.E1553K
c.4657G>A
1 paper
NM_001330683.2
p.T1543T
c.4629G>A
1 paper
NM_001330683.2
p.D1773E
c.5319T>A
1 paper
NM_001330683.2
p.D1773E
c.5319T>G
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