Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D7
Variant:p.G65Splc

TBC1D7

32 papers

RefSeq Summary

This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of c...

Pfam Domains

RabGAP-TBCaa 133–251UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 7

HGNC Alias Symbols

dJ257A7.3; FLJ32666; TBC7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016495.6
p.G65Splc
c.194-2A>G
Surrounding Variants
1 paper
NM_016495.6
p.V88G
c.263T>G
1 paper
NM_016495.6
p.V88D
c.263T>A
1 paper
NM_016495.6
p.V95I
c.283G>A
1 paper
NM_016495.6
p.R110C
c.328C>T
2 papers
NM_016495.6
p.L114R
c.341T>G
1 paper
NM_016495.6
p.L114P
c.341T>C
2 papers
NM_016495.6
p.L114Q
c.341T>A
2 papers
NM_016495.6
p.S124A
c.370T>G
1 paper
NM_016495.6
p.L127R
c.380T>G
1 paper
NM_016495.6
p.L127_E128Splc
c.381+43C>T
1 paper
NM_016495.6
p.G65Splc
c.193+47G>A
1 paper
NM_016495.6
p.M54T
c.161T>C
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