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.L117M

c.349T>A

Surrounding Variants

1 paper

NM_000216.4

p.L117L

c.349T>C

1 paper

NM_000216.4

p.E115*

c.343G>T

1 paper

NM_000216.4

p.E115K

c.343G>A

1 paper

NM_000216.4

p.C120_E121insC

c.358_362ins3

1 paper

NM_000216.4

p.L108P

c.323T>C

1 paper

NM_000216.4

p.I126I

c.378C>T

1 paper

NM_000216.4

p.P107L

c.320C>T

1 paper

NM_000216.4

p.P107H

c.320C>A

1 paper

NM_000216.4

p.F122_L127del6

c.364_380del18

1 paper

NM_000216.4

p.V129E

c.386T>A

1 paper

NM_000216.4

p.K130R

c.389A>G

2 papers

NM_000216.4

p.Q131H

c.393G>T