Varaico: Literature-Extracted Genetic Variants

Gene:AQP12A
Variant:p.L128P

AQP12A

39 papers

Pfam Domains

MIPaa 55–238UCSCMajor intrinsic protein

Gene Aliases

HGNC Name

aquaporin 12A

HGNC Previous Symbol

AQP12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_198998.3
p.L128P
c.383T>C
Surrounding Variants
1 paper
NM_198998.3
p.S140fs
c.418_419fs
3 papers
NM_198998.3
p.S140delFs
c.419delG
1 paper
NM_198998.3
p.S140fs
c.418_419fs
2 papers
NM_198998.3
p.A112A
c.336C>T
3 papers
NM_198998.3
p.R144P
c.431G>C
1 paper
NM_198998.3
p.L108Q
c.323T>A
1 paper
NM_198998.3
p.L108fs
c.322_323fs
3 papers
NM_198998.3
p.A158T
c.472G>A
1 paper
NM_198998.3
p.Q94E
c.280C>G
1 paper
NM_198998.3
p.E93D
c.279G>C
1 paper
NM_198998.3
p.E93D
c.279G>T
1 paper
NM_198998.3
p.E93*
c.277G>T
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