Varaico: Literature-Extracted Genetic Variants

Gene:ANOS1

ANOS1

382 papers

RefSeq Summary

Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this ce...

Pfam Domains

Cys_boxaa 44–125UCSCAnosmin cysteine rich domain
WAPaa 130–175UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'
fn3aa 184–281UCSCFibronectin type III domain
Ig_ANOS1aa 282–403UCSCAnosmin-1, immunoglobulin-like domain
Ig_ANOS1aa 409–527UCSCAnosmin-1, immunoglobulin-like domain
fn3aa 549–652UCSCFibronectin type III domain

Gene Aliases

HGNC Name

anosmin 1

HGNC Previous Symbols

KAL; ADMLX; KAL1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 552 variants
28 papers
NM_000216.4
p.R191*
c.571C>T
27 papers
NM_000216.4
p.R423*
c.1267C>T
25 papers
NM_000216.4
p.N267K
c.801T>G
25 papers
NM_000216.4
p.N267K
c.801T>A
25 papers
NM_000216.4
p.E514K
c.1540G>A
24 papers
NM_000216.4
p.C172R
c.514T>C
24 papers
NM_000216.4
p.F517L
c.1549T>C
24 papers
NM_000216.4
p.F517L
c.1551C>G
24 papers
NM_000216.4
p.F517L
c.1551C>A
20 papers
NM_000216.4
p.R257*
c.769C>T
19 papers
NM_000216.4
p.R424*
c.1270C>T
17 papers
NM_000216.4
p.C163Y
c.488G>A
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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."