Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D7
Variant:p.V149V

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
2 papers
NM_016495.6
p.V149V
c.447C>A
Surrounding Variants
1 paper
NM_016495.6
p.D150N
c.448G>A
1 paper
NM_016495.6
p.I154F
c.460A>T
1 paper
NM_016495.6
p.I154S
c.461T>G
1 paper
NM_016495.6
p.A138G
c.413C>G
1 paper
NM_016495.6
p.A138D
c.413C>A
2 papers
NM_016495.6
p.A136T
c.406G>A
1 paper
NM_016495.6
p.K165M
c.494A>T
1 paper
NM_016495.6
p.R167Q
c.500G>A
1 paper
NM_016495.6
p.D168V
c.503A>T
1 paper
NM_016495.6
p.D168G
c.503A>G
1 paper
NM_016495.6
p.L127_E128Splc
c.381+43C>T
1 paper
NM_016495.6
p.L127R
c.380T>G
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