Varaico: Literature-Extracted Genetic Variants

ALMS1

603 papers

RefSeq Summary

This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formati...

Pfam Domains

ALMS_repeataa 539–585UCSCAlstrom syndrome repeat

ALMS_repeataa 586–632UCSCAlstrom syndrome repeat

ALMS_repeataa 633–679UCSCAlstrom syndrome repeat

ALMS_repeataa 680–726UCSCAlstrom syndrome repeat

ALMS_repeataa 727–774UCSCAlstrom syndrome repeat

ALMS_repeataa 775–821UCSCAlstrom syndrome repeat

Gene Aliases

HGNC Name

ALMS1 centrosome and basal body associated protein

HGNC Alias Symbol

KIAA0328

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001378454.1

p.E977_S978insFs

c.2930_2933dup4

Surrounding Variants

1 paper

NM_015120.4

p.S979fs

c.2935_2936fs

2 papers

NM_015120.4

p.R977_E978insFs

c.2930_2933dup4

1 paper

NM_001378454.1

p.L979fs

c.2935_2936fs

3 papers

NM_001378454.1

p.K980insFs

c.2938dupA

1 paper

NM_001378454.1

p.M981delFs

c.2943delG

1 paper

NM_001378454.1

p.S982Y

c.2945C>A

1 paper

NM_001378454.1

p.S972_D973delFs

c.2915_2918del4

1 paper

NM_001378454.1

p.D971H

c.2911G>C

1 paper

NM_001378454.1

p.L969insFs

c.2905_2906insT

1 paper

NM_001378454.1

p.E968G

c.2903A>G

1 paper

NM_015120.4

p.E969insFs

c.2905_2906insT

1 paper

NM_015120.4

p.T989_D990delFs

c.2967_2970del4