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

1 paper

NM_015120.4

p.K3694*

c.11080A>T

Surrounding Variants

2 papers

NM_001378454.1

p.K3694*

c.11080A>T

1 paper

NM_001378454.1

p.K3696insFs

c.11086dupA

1 paper

NM_001378454.1

p.H3701N

c.11101C>A

1 paper

NM_001378454.1

p.H3701Y

c.11101C>T

5 papers

NM_001378454.1

p.R3702*

c.11104C>T

NM_015120.4

p.R3703*

c.11107C>T

3 papers

NM_001378454.1

p.A3703_I3709delFs

c.11107_11125del19

NM_015120.4

p.A3704_I3710delFs

c.11110_11128del19

1 paper

NM_001378454.1

p.E3683V

c.11048A>T

5 papers

NM_001378454.1

p.G3704_K3710delFs

c.11110_11128del19

1 paper

NM_001378454.1

p.L3682insFs

c.11045dupT

5 papers

NM_015120.4

p.R3706_I3712delFs

c.11116_11134del19

NM_001378454.1

p.R3705_I3711delFs

c.11113_11131del19

1 paper

NM_015120.4

p.S3682fs

c.11044_11045fs

2 papers

NM_015120.4

p.R3706fs

c.11116_11117fs

NM_001378454.1

p.R3705fs

c.11113_11114fs