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.A264V

c.791C>T

Surrounding Variants

5 papers

NM_000216.4

p.V263G

c.788T>G

1 paper

NM_000216.4

p.V266M

c.796G>A

1 paper

NM_000216.4

p.R262delFs

c.785delC

1 paper

NM_000216.4

p.R262L

c.785G>T

5 papers

NM_000216.4

p.R262P

c.785G>C

14 papers

NM_000216.4

p.R262Q

c.785G>A

13 papers

NM_000216.4

p.R262*

c.784C>T

25 papers

NM_000216.4

p.N267K

c.801T>G

25 papers

NM_000216.4

p.N267K

c.801T>A

1 paper

NM_000216.4

p.V268delFs

c.804delC

1 paper

NM_000216.4

p.W258delFs

c.774delC

10 papers

NM_000216.4

p.W258*

c.774G>A