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.T251I

c.752C>T

Surrounding Variants

1 paper

NM_000216.4

p.D252E

c.756C>G

1 paper

NM_000216.4

p.D252fs

c.754_755fs

1 paper

NM_000216.4

p.D252E

c.756C>A

1 paper

NM_000216.4

p.D252delFs

c.756delG

1 paper

NM_000216.4

p.I253_R254del2

c.757_761del6

1 paper

NM_000216.4

p.P255L

c.764C>T

1 paper

NM_000216.4

p.R247*

c.739C>T

1 paper

NM_000216.4

p.D245delFs

c.734_735delGT

20 papers

NM_000216.4

p.R257*

c.769C>T

2 papers

NM_000216.4

p.D245D

c.735C>T

1 paper

NM_000216.4

p.R257Q

c.770G>A

1 paper

NM_000216.4

p.W258fs

c.772_773fs