Varaico: Literature-Extracted Genetic Variants

Gene:STARD9
Variant:p.E1647D

STARD9

175 papers

Pfam Domains

Kinesinaa 9–384UCSCKinesin motor domain
FHAaa 503–569UCSCFHA domain
STARTaa 4501–4699UCSCSTART domain

Gene Aliases

HGNC Name

StAR related lipid transfer domain containing 9

HGNC Alias Symbols

KIAA1300; KIF16A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020759.3
p.E1647D
c.4941G>C
Surrounding Variants
1 paper
NM_020759.3
p.E1647D
c.4941G>T
1 paper
NM_020759.3
p.S1657N
c.4970G>A
1 paper
NM_020759.3
p.Y1692Y
c.5076C>T
1 paper
NM_020759.3
p.R1601Q
c.4802G>A
1 paper
NM_020759.3
p.S1591S
c.4773G>T
1 paper
NM_020759.3
p.K1706E
c.5116A>G
1 paper
NM_020759.3
p.S1578G
c.4732A>G
1 paper
NM_020759.3
p.N1541K
c.4623T>A
1 paper
NM_020759.3
p.N1541K
c.4623T>G
1 paper
NM_020759.3
p.P1776delFs
c.5328delC
1 paper
NM_020759.3
p.P1776S
c.5326C>T
1 paper
NM_020759.3
p.R1777fs
c.5329_5330fs
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