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

24 papers

NM_000216.4

p.C172R

c.514T>C

Surrounding Variants

1 paper

NM_000216.4

p.C172F

c.515G>T

1 paper

NM_000216.4

p.C172Y

c.515G>A

1 paper

NM_000216.4

p.H170delFs

c.509_510delGT

1 paper

NM_000216.4

p.C168_C172del5

c.502_515del15

1 paper

NM_000216.4

p.V174_P175ins6

c.520_524ins18

1 paper

NM_000216.4

p.H170_T171insGCA

c.508_512ins9

1 paper

NM_000216.4

p.G169E

c.506G>A

1 paper

NM_000216.4

p.P175L

c.524C>T

1 paper

NM_000216.4

p.P175_K176ins2

c.525_526ins6

1 paper

NM_000216.4

p.G167W

c.499G>T

1 paper

NM_000216.4

p.G167R

c.499G>C

1 paper

NM_000216.4

p.L178M

c.532C>A