Varaico: Literature-Extracted Genetic Variants

Gene:TMEM248
Variant:p.I156V

TMEM248

20 papers

Pfam Domains

TMEM219aa 10–257UCSCTransmembrane 219

Gene Aliases

HGNC Name

transmembrane protein 248

HGNC Previous Symbol

C7orf42

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017994.5
p.I156V
c.466A>G
Surrounding Variants
3 papers
NM_017994.5
p.T187P
c.559A>C
1 paper
NM_017994.5
p.A190A
c.570C>A
1 paper
NM_017994.5
p.P109L
c.326C>T
1 paper
NM_017994.5
p.S97F
c.290C>T
1 paper
NM_017994.5
p.P85L
c.254C>T
1 paper
NM_017994.5
p.T83_T88del6
c.247_263del18
1 paper
NM_017994.5
p.L78F
c.232C>T
1 paper
NM_017994.5
p.F278V
c.832T>G
1 paper
NM_017994.5
p.M280I
c.840G>A
1 paper
NM_017994.5
p.C286R
c.856T>C
1 paper
NM_017994.5
p.E303K
c.907G>A
1 paper
NM_017994.5
p.I43M
c.129C>G
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