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.N3672fs

c.11014_11015fs

Surrounding Variants

1 paper

NM_015120.4

p.N3672I

c.11015A>T

2 papers

NM_015120.4

p.N3672delFs

c.11015delA

4 papers

NM_001378454.1

p.Q3669*

c.11005C>T

1 paper

NM_001378454.1

p.L3673F

c.11017C>T

1 paper

NM_015120.4

p.K3676_K3677delFs

c.11027_11030del4

1 paper

NM_001378454.1

p.K3676_K3677delFs

c.11027_11030del4

1 paper

NM_015120.4

p.S3682Fs

c.11044delinsAAFs

1 paper

NM_015120.4

p.S3682fs

c.11044_11045fs

1 paper

NM_001378454.1

p.L3682insFs

c.11045dupT

1 paper

NM_001378454.1

p.E3683V

c.11048A>T

11 papers

NM_015120.4

p.R3659*

c.10975C>T

NM_001378454.1

p.R3658*

c.10972C>T

1 paper

NM_015120.4

p.K3694*

c.11080A>T