Varaico: Literature-Extracted Genetic Variants

Gene:TTC3
Variant:p.K1026K

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
2 papers
NM_001330683.2
p.K1026K
c.3078G>A
Surrounding Variants
9 papers
NM_001330683.2
p.S1038C
c.3113C>G
1 paper
NM_001330683.2
p.T1040I
c.3119C>T
1 paper
NM_001330683.2
p.V1069V
c.3207G>C
1 paper
NM_001330683.2
p.D998Splc
c.2992+274G>A
1 paper
NM_001330683.2
p.F994V
c.2980T>G
1 paper
NM_001330683.2
p.S961S
c.2883T>A
1 paper
NM_001330683.2
p.R1143Q
c.3428G>A
1 paper
NM_001330683.2
p.V1164V
c.3492G>C
1 paper
NM_001330683.2
p.R1177Q
c.3530G>A
1 paper
NM_001330683.2
p.N1208D
c.3622A>G
1 paper
NM_001330683.2
p.N1208S
c.3623A>G
1 paper
NM_001330683.2
p.S1228L
c.3683C>T
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