Varaico: Literature-Extracted Genetic Variants

Gene:TMEM200C
Variant:p.Y478*

TMEM200C

45 papers

Pfam Domains

DUF2371aa 14–201UCSCUncharacterised conserved protein (DUF2371)

Gene Aliases

HGNC Name

transmembrane protein 200C

HGNC Alias Symbol

TTMA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001395400.1
p.Y478*
c.1434C>G
Surrounding Variants
1 paper
NM_001395400.1
p.Y478*
c.1434C>A
1 paper
NM_001395400.1
p.R479Q
c.1436G>A
1 paper
NM_001395400.1
p.L475_P476delFs
c.1425_1426delGG
1 paper
NM_001395400.1
p.A493A
c.1479G>A
1 paper
NM_001395400.1
p.D494E
c.1482C>G
1 paper
NM_001395400.1
p.D494E
c.1482C>A
1 paper
NM_001395400.1
p.S498G
c.1492A>G
2 papers
NM_001395400.1
p.L500V
c.1498C>G
2 papers
NM_001395400.1
p.R452R
c.1354A>C
1 paper
NM_001395400.1
p.V446_A447insTA
c.1336_1340ins6
1 paper
NM_001395400.1
p.A435A
c.1305G>C
1 paper
NM_001395400.1
p.R433C
c.1297C>T
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