Varaico: Literature-Extracted Genetic Variants

Gene:TMEM98
Variant:p.H196P

TMEM98

32 papers

RefSeq Summary

This gene encodes a transmembrane protein. A missense mutation in this gene result in Nanophthalmos 4 (NNO4). Alternatively spliced transcript variants encoding the same protein have been found for th...

Pfam Domains

TMEM98_Naa 1–44UCSCTransmembrane protein 98 N-terminal helical domain

Gene Aliases

HGNC Name

transmembrane protein 98

HGNC Alias Symbol

DKFZP564K1964

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_015544.3
p.H196P
c.587A>C
Surrounding Variants
1 paper
NM_015544.3
p.V199del1
c.595_596delGTC
12 papers
NM_015544.3
p.A193P
c.577G>C
6 papers
NM_015544.3
p.R201P
c.602G>C
1 paper
NM_015544.3
p.R174W
c.520A>T
3 papers
NM_015544.3
p.I135T
c.404T>C
1 paper
NM_015544.3
p.S115F
c.344C>T
1 paper
NM_015544.3
p.L108insFs
c.323dupT
1 paper
NM_015544.3
p.A96_I97delFs
c.287_291del5
1 paper
NM_015544.3
p.S92S
c.276C>T
1 paper
NM_015544.3
p.M91I
c.273G>A
1 paper
NM_015544.3
p.S88Splc
c.263+1G>A
1 paper
NM_015544.3
p.W83R
c.247T>A
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