Varaico: Literature-Extracted Genetic Variants

Gene:TDRD7
Variant:p.R12L

TDRD7

317 papers

RefSeq Summary

The protein encoded by this gene belongs to the Tudor family of proteins. This protein contains conserved Tudor domains and LOTUS domains. It is a component of RNA granules, which function in RNA proc...

Pfam Domains

OST-HTHaa 5–72UCSCOST-HTH/LOTUS domain
OST-HTHaa 233–272UCSCOST-HTH/LOTUS domain
TUDORaa 459–581UCSCTudor domain
TUDORaa 648–775UCSCTudor domain
TUDORaa 908–1026UCSCTudor domain

Gene Aliases

HGNC Name

tudor domain containing 7

HGNC Alias Symbol

PCTAIRE2BP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014290.3
p.R12L
c.35G>T
Surrounding Variants
2 papers
NM_014290.3
p.R12Q
c.35G>A
2 papers
NM_014290.3
p.R12P
c.35G>C
1 paper
NM_014290.3
p.R12G
c.34C>G
3 papers
NM_014290.3
p.L11L
c.33A>G
1 paper
NM_014290.3
p.L11L
c.33A>T
1 paper
NM_014290.3
p.A13T
c.37G>A
1 paper
NM_014290.3
p.L11P
c.32T>C
1 paper
NM_014290.3
p.V7A
c.20T>C
1 paper
NM_014290.3
p.H18L
c.53A>T
1 paper
NM_014290.3
p.K19*
c.55A>T
2 papers
NM_014290.3
p.D5insFs
c.14dupA
1 paper
NM_014290.3
p.E3*
c.7G>T
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