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.R427C

c.1279C>T

Surrounding Variants

2 papers

NM_000216.4

p.P428L

c.1283C>T

1 paper

NM_000216.4

p.P425P

c.1275C>T

2 papers

NM_000216.4

p.P419_R424delFs

c.1257_1270del14

19 papers

NM_000216.4

p.R424*

c.1270C>T

1 paper

NM_000216.4

p.E430delFs

c.1290delT

27 papers

NM_000216.4

p.R423*

c.1267C>T

1 paper

NM_000216.4

p.R423G

c.1267C>G

8 papers

NM_000216.4

p.Q421*

c.1261C>T

2 papers

NM_000216.4

p.F420delFs

c.1260delA

2 papers

NM_000216.4

p.Q421fs

c.1261_1262fs

1 paper

NM_000216.4

p.P419fs

c.1255_1256fs

1 paper

NM_000216.4

p.F435L

c.1303T>C