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

4 papers

NM_000216.4

p.K185N

c.555G>C

Surrounding Variants

4 papers

NM_000216.4

p.K185N

c.555G>T

1 paper

NM_000216.4

p.P186L

c.557C>T

1 paper

NM_000216.4

p.L184insFs

c.551dupT

1 paper

NM_000216.4

p.L184delFs

c.550delG

1 paper

NM_000216.4

p.R187G

c.559A>G

2 papers

NM_000216.4

p.E189fs

c.565_566fs

1 paper

NM_000216.4

p.G181fs

c.541_542fs

1 paper

NM_000216.4

p.E189delFs

c.566_567delCT

2 papers

NM_000216.4

p.G181Splc

c.542-1G>C

1 paper

NM_000216.4

p.G181Splc

c.542-1G>A

28 papers

NM_000216.4

p.R191*

c.571C>T

3 papers

NM_000216.4

p.L190_R191insFs

c.570_571insA