Varaico: Literature-Extracted Genetic Variants

Gene:STARD8

STARD8

57 papers

RefSeq Summary

This gene encodes a member of a subfamily of Rho GTPase activating proteins that contain a steroidogenic acute regulatory protein related lipid transfer domain. The encoded protein localizes to focal ...

Pfam Domains

RhoGAPaa 586–731UCSCRhoGAP domain
STARTaa 818–1019UCSCSTART domain

Gene Aliases

HGNC Name

StAR related lipid transfer domain containing 8

HGNC Alias Symbols

KIAA0189; ARHGAP38

Papers
RefSeq ID
Protein change
DNA change
1–12 of 66 variants
3 papers
NM_001142503.3
p.S993N
c.2978G>A
2 papers
NM_001142503.3
p.E35K
c.103G>A
2 papers
NM_001142503.3
p.R660C
c.1978C>T
2 papers
NM_001142503.3
p.R887C
c.2659C>T
1 paper
NM_001142503.3
p.A33T
c.97G>A
1 paper
NM_001142503.3
p.D69D
c.207C>T
1 paper
NM_001142503.3
p.L83F
c.249G>C
1 paper
NM_001142503.3
p.L83F
c.249G>T
1 paper
NM_001142503.3
p.S88L
c.263C>T
1 paper
NM_001142503.3
p.P135L
c.404C>T
1 paper
NM_001142503.3
p.E168K
c.502G>A
1 paper
NM_001142503.3
p.A170V
c.509C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."