Varaico: Literature-Extracted Genetic Variants

Gene:MIP
Variant:p.Y219fs

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
3 papers
NM_012064.4
p.Y219fs
c.655_656fs
Surrounding Variants
2 papers
NM_012064.4
p.Y219delFs
c.655delA
7 papers
NM_012064.4
p.Y219*
c.657C>G
7 papers
NM_012064.4
p.Y219*
c.657C>A
1 paper
NM_012064.4
p.D220N
c.658G>A
1 paper
NM_012064.4
p.L214_Y219delFs
c.640_656del17
9 papers
NM_012064.4
p.G215D
c.644G>A
1 paper
NM_012064.4
p.F224insFs
c.670_671insA
1 paper
NM_012064.4
p.L214fs
c.640_641fs
1 paper
NM_012064.4
p.G213insFs
c.638dupG
1 paper
NM_012064.4
p.G213fs
c.637_638fs
13 papers
NM_012064.4
p.G213delFs
c.638delC
1 paper
NM_012064.4
p.F224L
c.672C>G
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