Varaico: Literature-Extracted Genetic Variants

Gene:TMEM132E
Variant:p.L783P

TMEM132E

59 papers

Pfam Domains

TMEM132_Naa 45–108UCSCTMEM132 N-terminal
Ig_TMEM132_2ndaa 125–265UCSCTMEM132 second Ig-like domain
TMEM132_3rdaa 284–438UCSCTMEM132 cohesin-like domain
Ig_TMEM132_4thaa 440–537UCSCTMEM132 fourth domain
Ig_TMEM132_5thaa 540–681UCSCTMEM132 fifth domain
Ig_TMEM132_6thaa 682–795UCSCTMEM132 sixth domain

Gene Aliases

HGNC Name

transmembrane protein 132E

HGNC Alias Symbol

DFNB99

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001304438.2
p.L783P
c.2348T>C
Surrounding Variants
1 paper
NM_001304438.2
p.L782L
c.2344C>T
1 paper
NM_001304438.2
p.S754delFs
c.2260delA
1 paper
NM_001304438.2
p.R747*
c.2239C>T
1 paper
NM_001304438.2
p.G736R
c.2206G>C
1 paper
NM_001304438.2
p.Y733N
c.2197T>A
2 papers
NM_001304438.2
p.G858R
c.2572G>C
1 paper
NM_001304438.2
p.A893A
c.2679G>T
1 paper
NM_001304438.2
p.F898C
c.2693T>G
1 paper
NM_001304438.2
p.R915C
c.2743C>T
1 paper
NM_001304438.2
p.R917R
c.2751G>A
1 paper
NM_001304438.2
p.G955G
c.2865C>T
1 paper
NM_001304438.2
p.C965R
c.2893T>C
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