Varaico: Literature-Extracted Genetic Variants

Gene:TTC3
Variant:p.A1309S

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.A1309S
c.3925G>T
Surrounding Variants
1 paper
NM_001330683.2
p.A1309T
c.3925G>A
1 paper
NM_001330683.2
p.Y1307*
c.3921T>A
1 paper
NM_001330683.2
p.Y1307*
c.3921T>G
1 paper
NM_001330683.2
p.K1289M
c.3866A>T
1 paper
NM_001330683.2
p.E1284K
c.3850G>A
1 paper
NM_001330683.2
p.E1284Q
c.3850G>C
1 paper
NM_001330683.2
p.P1281A
c.3841C>G
1 paper
NM_001330683.2
p.V1338M
c.4012G>A
1 paper
NM_001330683.2
p.D1251N
c.3751G>A
1 paper
NM_001330683.2
p.P1369P
c.4107G>A
1 paper
NM_001330683.2
p.P1239S
c.3715C>T
1 paper
NM_001330683.2
p.E1233Q
c.3697G>C
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