Varaico: Literature-Extracted Genetic Variants

Gene:MIP
Variant:p.A101fs

MIP

360 papers

RefSeq Summary

Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP family of channel proteins. The function of the fiber cell membrane protein encoded b...

Pfam Domains

MIPaa 3–219UCSCMajor intrinsic protein

Gene Aliases

HGNC Name

major intrinsic protein of lens fiber

HGNC Alias Symbols

MP26; LIM1; AQP0

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012064.4
p.A101fs
c.301_302fs
Surrounding Variants
1 paper
NM_012064.4
p.A101delFs
c.301delC
1 paper
NM_012064.4
p.G100V
c.299G>T
1 paper
NM_012064.4
p.A101fs
c.301_302fs
1 paper
NM_012064.4
p.G100R
c.298G>A
1 paper
NM_012064.4
p.A99V
c.296C>T
1 paper
NM_012064.4
p.V103E
c.308T>A
2 papers
NM_012064.4
p.V103_L104insFs
c.309_310insA
18 papers
NM_012064.4
p.V107I
c.319G>A
1 paper
NM_012064.4
p.T108N
c.323C>A
1 paper
NM_012064.4
p.T108T
c.324C>A
2 papers
NM_012064.4
p.Q93R
c.278A>G
1 paper
NM_012064.4
p.Q93K
c.277C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."