Varaico: Literature-Extracted Genetic Variants

Gene:TMEM237
Variant:p.S25Splc

TMEM237

94 papers

RefSeq Summary

The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding dif...

Pfam Domains

TMEM237aa 140–384UCSCTransmembrane protein 237

Gene Aliases

HGNC Name

transmembrane protein 237

HGNC Previous Symbol

ALS2CR4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001044385.3
p.S25Splc
c.74+1G>T
Surrounding Variants
1 paper
NM_001044385.3
p.A19T
c.55G>A
14 papers
NM_001044385.3
p.R18*
c.52C>T
1 paper
NM_001044385.3
p.L14_R15Splc
c.43-1G>C
1 paper
NM_001044385.3
p.Q26*
c.76C>T
NM_152388.4
p.Q18*
c.52C>T
1 paper
NM_001044385.3
p.D28G
c.83A>G
1 paper
NM_152388.4
p.P26S
c.76C>T
1 paper
NM_001044385.3
p.K35delFs
c.103delT
1 paper
NM_001044385.3
p.K38R
c.113A>G
1 paper
NM_001044385.3
p.A7A
c.21T>G
1 paper
NM_001044385.3
p.T3T
c.9T>G
1 paper
NM_001044385.3
p.M1insFs
c.2_3insT
1 paper
NM_001044385.3
p.M1V
c.1A>G
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