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.S283P

c.847T>C

Surrounding Variants

1 paper

NM_000216.4

p.R282L

c.845G>T

2 papers

NM_000216.4

p.R282delFs

c.844delG

2 papers

NM_000216.4

p.R282fs

c.844_845fs

2 papers

NM_000216.4

p.D286Splc

c.856+3C>T

2 papers

NM_000216.4

p.D286Splc

c.856+5G>C

1 paper

NM_000216.4

p.S278N

c.833G>A

3 papers

NM_000216.4

p.P277delFs

c.831delG

1 paper

NM_000216.4

p.P277fs

c.829_830fs

2 papers

NM_000216.4

p.P277T

c.829C>A

1 paper

NM_000216.4

p.T275I

c.824C>T

1 paper

NM_000216.4

p.G273A

c.818G>C

4 papers

NM_000216.4

p.R272*

c.814C>T