Varaico: Literature-Extracted Genetic Variants

Gene:TMEM132E
Variant:p.A128S

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.A128S
c.382G>T
Surrounding Variants
1 paper
NM_001304438.2
p.A137T
c.409G>A
1 paper
NM_001304438.2
p.T113P
c.337A>C
1 paper
NM_001304438.2
p.G157A
c.470G>C
1 paper
NM_001304438.2
p.V92I
c.274G>A
1 paper
NM_001304438.2
p.C180Y
c.539G>A
1 paper
NM_001304438.2
p.L186L
c.556C>T
1 paper
NM_001304438.2
p.A187T
c.559G>A
1 paper
NM_001304438.2
p.V191delFs
c.573delG
1 paper
NM_001304438.2
p.P64L
c.191C>T
1 paper
NM_001304438.2
p.T52K
c.155C>A
1 paper
NM_001304438.2
p.T52M
c.155C>T
1 paper
NM_001304438.2
p.S50S
c.150G>C
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