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

8 papers

NM_000216.4

p.C163R

c.487T>C

Surrounding Variants

17 papers

NM_000216.4

p.C163Y

c.488G>A

1 paper

NM_000216.4

p.C164R

c.490T>C

2 papers

NM_000216.4

p.C164S

c.490T>A

2 papers

NM_000216.4

p.C164S

c.491G>C

1 paper

NM_000216.4

p.G159_C164del6

c.475_491del18

1 paper

NM_000216.4

p.S165L

c.494C>T

8 papers

NM_000216.4

p.C163del1

c.487_488delACA

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.C157_S158delFs

c.471_472delAG

1 paper

NM_000216.4

p.S158C

c.473C>G

1 paper

NM_000216.4

p.C157S

c.470G>C