Varaico: Literature-Extracted Genetic Variants

Gene:TMEM107
Variant:p.L25L

TMEM107

35 papers

RefSeq Summary

This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a...

Pfam Domains

TMEM107aa 7–129UCSCTransmembrane protein

Gene Aliases

HGNC Name

transmembrane protein 107

HGNC Alias Symbols

MGC10744; JBTS29; MKS13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_183065.4
p.L25L
c.75A>G
Surrounding Variants
1 paper
NM_183065.4
p.L25F
c.75A>C
1 paper
NM_183065.4
p.L25V
c.73T>G
2 papers
NM_183065.4
p.W27C
c.81G>C
2 papers
NM_183065.4
p.W27*
c.81G>A
1 paper
NM_183065.4
p.V22del1
c.64_66delGAC
1 paper
NM_183065.4
p.V22I
c.64G>A
1 paper
NM_183065.4
p.V21A
c.62T>C
1 paper
NM_183065.4
p.V21insFs
c.61_62insT
2 papers
NM_183065.4
p.V20_V21insFs
c.60_61insT
1 paper
NM_183065.4
p.V20V
c.60G>C
2 papers
NM_183065.4
p.V20insFs
c.58dupG
2 papers
NM_183065.4
p.V20G
c.59T>G
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