Varaico: Literature-Extracted Genetic Variants

Gene:TMIE
Variant:p.L56delFs

TMIE

114 papers

RefSeq Summary

This gene encodes a transmembrane inner ear protein. Studies in mouse suggest that this gene is required for normal postnatal maturation of sensory hair cells in the cochlea, including correct develop...

Pfam Domains

TMIEaa 1–81UCSCTMIE protein

Gene Aliases

HGNC Name

transmembrane inner ear

HGNC Previous Symbol

DFNB6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_147196.3
p.L56delFs
c.167delT
Surrounding Variants
5 papers
NM_147196.3
p.W57*
c.170G>A
5 papers
NM_147196.3
p.W57*
c.171G>A
1 paper
NM_147196.3
p.V59M
c.175G>A
1 paper
NM_147196.3
p.W52R
c.154T>A
1 paper
NM_147196.3
p.W52R
c.154T>C
1 paper
NM_147196.3
p.V67M
c.199G>A
2 papers
NM_147196.3
p.V67delFs
c.201delG
1 paper
NM_147196.3
p.L68fs
c.202_203fs
1 paper
NM_147196.3
p.P43fs
c.127_128fs
1 paper
NM_147196.3
p.P43fs
c.127_128fs
2 papers
NM_147196.3
p.S69F
c.206C>T
1 paper
NM_147196.3
p.P42_P43insFs
c.126_127ins4
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