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.F517L

c.1551C>A

Surrounding Variants

24 papers

NM_000216.4

p.F517L

c.1551C>G

24 papers

NM_000216.4

p.F517L

c.1549T>C

1 paper

NM_000216.4

p.A515insFs

c.1545dupT

1 paper

NM_000216.4

p.P521S

c.1561C>T

1 paper

NM_000216.4

p.E514*

c.1540G>T

25 papers

NM_000216.4

p.E514K

c.1540G>A

1 paper

NM_000216.4

p.P522Q

c.1565C>A

6 papers

NM_000216.4

p.S511Y

c.1532C>A

1 paper

NM_000216.4

p.S509_H510del2

c.1525_1529del6

1 paper

NM_000216.4

p.A525_L526ins6

c.1573_1577ins18

1 paper

NM_000216.4

p.S509fs

c.1525_1526fs

1 paper

NM_000216.4

p.K508delFs

c.1524delT