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

2 papers

NM_015120.4

p.L590*

c.1769T>A

Surrounding Variants

1 paper

NM_001378454.1

p.G588D

c.1763G>A

1 paper

NM_001378454.1

p.S592_H593insFs

c.1775_1778dup4

1 paper

NM_001378454.1

p.Q586H

c.1758G>C

1 paper

NM_001378454.1

p.Q586H

c.1758G>T

1 paper

NM_001378454.1

p.Q586E

c.1756C>G

1 paper

NM_001378454.1

p.F584I

c.1750T>A

2 papers

NM_015120.4

p.E597delFs

c.1789delG

NM_001378454.1

p.E596delFs

c.1786delG

1 paper

NM_001378454.1

p.E596fs

c.1786_1787fs

2 papers

NM_001378454.1

p.E597delFs

c.1789delG

1 paper

NM_001378454.1

p.E597fs

c.1789_1790fs

1 paper

NM_001378454.1

p.A598delFs

c.1793delC

1 paper

NM_001378454.1

p.R578fs

c.1732_1733fs