Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D10B
Variant:p.K730K

TBC1D10B

44 papers

RefSeq Summary

Small G proteins of the RAB family (see MIM 179508) function in intracellular vesicle trafficking by switching from the GTP-bound state to the GDP-bound state with the assistance of guanine nucleotide...

Pfam Domains

RabGAP-TBCaa 363–564UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 10B

HGNC Alias Symbols

DKFZP434P1750; Rab27A-GAPbeta; FLJ13130; EPI64B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015527.4
p.K730K
c.2190A>G
Surrounding Variants
1 paper
NM_015527.4
p.Q729E
c.2185C>G
1 paper
NM_015527.4
p.R728R
c.2184G>A
1 paper
NM_015527.4
p.R728Q
c.2183G>A
1 paper
NM_015527.4
p.K737K
c.2211A>G
1 paper
NM_015527.4
p.E720E
c.2160G>A
1 paper
NM_015527.4
p.K740del1
c.2218_2220delCTT
2 papers
NM_015527.4
p.G689G
c.2067G>T
1 paper
NM_015527.4
p.K778T
c.2333A>C
1 paper
NM_015527.4
p.P680L
c.2039C>T
1 paper
NM_015527.4
p.G675V
c.2024G>T
1 paper
NM_015527.4
p.R631Q
c.1892G>A
1 paper
NM_015527.4
p.E627G
c.1880A>G
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