Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.S148C

AQP2

429 papers

RefSeq Summary

This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations i...

Pfam Domains

MIPaa 3–219UCSCMajor intrinsic protein

Gene Aliases

HGNC Name

aquaporin 2

HGNC Previous Name

aquaporin 2 (collecting duct)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000486.6
p.S148C
c.443C>G
Surrounding Variants
2 papers
NM_000486.6
p.S148A
c.442T>G
1 paper
NM_000486.6
p.T149S
c.446C>G
3 papers
NM_000486.6
p.A147V
c.440C>T
44 papers
NM_000486.6
p.A147T
c.439G>A
1 paper
NM_000486.6
p.D150N
c.448G>A
19 papers
NM_000486.6
p.D150E
c.450T>A
19 papers
NM_000486.6
p.D150E
c.450T>G
1 paper
NM_000486.6
p.C144S
c.431G>C
1 paper
NM_000486.6
p.C144S
c.430T>A
1 paper
NM_000486.6
p.R153delFs
c.458delG
3 papers
NM_000486.6
p.T138R
c.413C>G
1 paper
NM_000486.6
p.G158G
c.474C>A
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