Varaico: Literature-Extracted Genetic Variants

Gene:CA6
Variant:p.M68L

CA6

40 papers

RefSeq Summary

The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of...

Pfam Domains

Carb_anhydraseaa 30–278UCSCEukaryotic-type carbonic anhydrase

Gene Aliases

HGNC Name

carbonic anhydrase 6

HGNC Previous Name

carbonic anhydrase VI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_001215.4
p.M68L
c.202A>C
Surrounding Variants
6 papers
NM_001215.4
p.M68L
c.202A>T
6 papers
NM_001215.4
p.G70A
c.209G>C
2 papers
NM_001215.4
p.G76G
c.228G>C
1 paper
NM_001215.4
p.T55R
c.164C>G
8 papers
NM_001215.4
p.T55M
c.164C>T
1 paper
NM_001215.4
p.V87delFs
c.259delG
1 paper
NM_001215.4
p.A41T
c.121G>A
2 papers
NM_001215.4
p.Q18*
c.52C>T
13 papers
NM_001215.4
p.S90G
c.268A>G
1 paper
NM_001215.4
p.T98A
c.292A>G
1 paper
NM_001215.4
p.E136_I137Splc
c.408+1G>C
1 paper
NM_001215.4
p.I137S
c.410T>G
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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."