Varaico: Literature-Extracted Genetic Variants

Gene:TMCO5A
Variant:p.K148_V149Splc

TMCO5A

22 papers

Pfam Domains

TMCO5aa 13–287UCSCTMCO5 family

Gene Aliases

HGNC Name

transmembrane and coiled-coil domains 5A

HGNC Previous Symbol

TMCO5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152453.4
p.K148_V149Splc
c.445-1G>A
Surrounding Variants
1 paper
NM_152453.4
p.Q158K
c.472C>A
1 paper
NM_152453.4
p.Q163R
c.488A>G
1 paper
NM_152453.4
p.I177_E178del2
c.529_533del6
1 paper
NM_152453.4
p.I177_E178del1
c.531_533delAGA
1 paper
NM_152453.4
p.E178D
c.534A>C
1 paper
NM_152453.4
p.E178D
c.534A>T
1 paper
NM_152453.4
p.E200G
c.599A>G
1 paper
NM_152453.4
p.T204P
c.610A>C
1 paper
NM_152453.4
p.Q104*
c.310C>T
1 paper
NM_152453.4
p.L88_E89Splc
c.264+12G>A
1 paper
NM_152453.4
p.D61D
c.183T>C
1 paper
NM_152453.4
p.V59_E60delFs
c.177_178delGG
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