Varaico: Literature-Extracted Genetic Variants

Gene:TMEM132E

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
1–12 of 69 variants
2 papers
NM_001304438.2
p.G858R
c.2572G>C
1 paper
NM_001304438.2
p.G9S
c.25G>A
1 paper
NM_001304438.2
p.L16L
c.48C>G
1 paper
NM_001304438.2
p.S17L
c.50C>T
1 paper
NM_001304438.2
p.A18T
c.52G>A
1 paper
NM_001304438.2
p.A18E
c.53C>A
1 paper
NM_001304438.2
p.L20F
c.58C>T
1 paper
NM_001304438.2
p.P32S
c.94C>T
1 paper
NM_001304438.2
p.S50S
c.150G>C
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.P64L
c.191C>T
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