Varaico: Literature-Extracted Genetic Variants

Gene:MICALL2
Variant:p.S512L

MICALL2

65 papers

Pfam Domains

CHaa 1–108UCSCCalponin homology (CH) domain
LIMaa 188–244UCSCLIM domain
bMERB_domaa 740–872UCSCBivalent Mical/EHBP Rab binding domain

Gene Aliases

HGNC Name

MICAL like 2

HGNC Alias Symbols

MGC46023; FLJ23471; MICAL-L2; JRAB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_182924.4
p.S512L
c.1535C>T
Surrounding Variants
1 paper
NM_182924.4
p.P517L
c.1550C>T
1 paper
NM_182924.4
p.P519L
c.1556C>T
1 paper
NM_182924.4
p.T525I
c.1574C>T
2 papers
NM_182924.4
p.P533L
c.1598C>T
1 paper
NM_182924.4
p.K487fs
c.1459_1460fs
1 paper
NM_182924.4
p.G546C
c.1636G>T
1 paper
NM_182924.4
p.P554L
c.1661C>T
1 paper
NM_182924.4
p.P559L
c.1676C>T
1 paper
NM_182924.4
p.Q570H
c.1710G>T
1 paper
NM_182924.4
p.Q570H
c.1710G>C
1 paper
NM_182924.4
p.A629S
c.1885G>T
1 paper
NM_182924.4
p.L441H
c.1322T>A
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