Varaico: Literature-Extracted Genetic Variants

Gene:MICAL3
Variant:p.S1704F

MICAL3

108 papers

Pfam Domains

FAD_binding_3aa 86–140UCSCFAD binding domain
Rossman_Micalaa 241–370UCSCMical, Rossman domain
CHaa 519–625UCSCCalponin homology (CH) domain
LIMaa 764–822UCSCLIM domain
bMERB_domaa 1854–1988UCSCBivalent Mical/EHBP Rab binding domain

Gene Aliases

HGNC Name

microtubule associated monooxygenase, calponin and LIM domain containing 3

HGNC Alias Symbol

KIAA0819

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015241.3
p.S1704F
c.5111C>T
Surrounding Variants
1 paper
NM_015241.3
p.K1710del1
c.5128_5130delCTT
1 paper
NM_015241.3
p.S1692C
c.5075C>G
1 paper
NM_015241.3
p.E1717K
c.5149G>A
1 paper
NM_015241.3
p.L1729L
c.5187A>G
1 paper
NM_015241.3
p.S1745S
c.5235C>T
1 paper
NM_015241.3
p.R1656R
c.4966A>C
1 paper
NM_015241.3
p.K1758*
c.5272A>T
1 paper
NM_015241.3
p.R1646Q
c.4937G>A
1 paper
NM_015241.3
p.S1766N
c.5297G>A
1 paper
NM_015241.3
p.V1780V
c.5340C>T
1 paper
NM_015241.3
p.L1625fs
c.4873_4874fs
1 paper
NM_015241.3
p.L1625insFs
c.4873_4874ins19
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