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

2 papers

NM_000216.4

p.P504L

c.1511C>T

Surrounding Variants

1 paper

NM_000216.4

p.T501_V502delFs

c.1503_1506del4

1 paper

NM_000216.4

p.V502A

c.1505T>C

3 papers

NM_000216.4

p.R506Q

c.1517G>A

1 paper

NM_000216.4

p.V502fs

c.1504_1505fs

1 paper

NM_000216.4

p.P507L

c.1520C>T

1 paper

NM_000216.4

p.K508K

c.1524A>G

1 paper

NM_000216.4

p.K508delFs

c.1524delT

1 paper

NM_000216.4

p.S509fs

c.1525_1526fs

1 paper

NM_000216.4

p.K497insFs

c.1491dupG

1 paper

NM_000216.4

p.S509_H510del2

c.1525_1529del6

6 papers

NM_000216.4

p.S511Y

c.1532C>A

1 paper

NM_000216.4

p.S495F

c.1484C>T