Varaico: Literature-Extracted Genetic Variants

Gene:AQP12A

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
1–12 of 26 variants
4 papers
NM_198998.3
p.R23Q
c.68G>A
3 papers
NM_198998.3
p.L28R
c.83T>G
3 papers
NM_198998.3
p.S140delFs
c.419delG
3 papers
NM_198998.3
p.R144P
c.431G>C
3 papers
NM_198998.3
p.A158T
c.472G>A
2 papers
NM_198998.3
p.A70V
c.209C>T
2 papers
NM_198998.3
p.A112A
c.336C>T
2 papers
NM_198998.3
p.L128P
c.383T>C
1 paper
NM_198998.3
p.V6M
c.16G>A
1 paper
NM_198998.3
p.E35E
c.105A>G
1 paper
NM_198998.3
p.A41V
c.122C>T
1 paper
NM_198998.3
p.A41_M42Splc
c.123+6T>C
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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."