Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

1 paper

NM_000216.4

p.P229R

c.686C>G

Surrounding Variants

1 paper

NM_000216.4

p.S230insFs

c.689_690insC

1 paper

NM_000216.4

p.E231K

c.691G>A

1 paper

NM_000216.4

p.D232N

c.694G>A

2 papers

NM_000216.4

p.E231_D232del2

c.691_695del6

1 paper

NM_000216.4

p.A234A

c.702C>G

1 paper

NM_000216.4

p.W223*

c.669G>A

1 paper

NM_000216.4

p.W223*

c.668G>A

1 paper

NM_000216.4

p.W237R

c.709T>C

1 paper

NM_000216.4

p.W237R

c.709T>A

10 papers

NM_000216.4

p.W237*

c.710G>A

1 paper

NM_000216.4

p.W237C

c.711G>T

1 paper

NM_000216.4

p.W237C

c.711G>C