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.T2717insFs

c.8150_8151insT

Surrounding Variants

1 paper

NM_015120.4

p.S2719fs

c.8155_8156fs

3 papers

NM_001378454.1

p.H2720Y

c.8158C>T

1 paper

NM_001378454.1

p.T2712N

c.8135C>A

13 papers

NM_015120.4

p.R2722*

c.8164C>T

NM_001378454.1

p.R2721*

c.8161C>T

10 papers

NM_001378454.1

p.H2722Y

c.8164C>T

1 paper

NM_015120.4

p.C2726_N2729delFs

c.8177_8187del11

1 paper

NM_001378454.1

p.M2708delFs

c.8122delA

1 paper

NM_001378454.1

p.I2726_S2729delFs

c.8177_8187del11

1 paper

NM_001378454.1

p.S2704F

c.8111C>T

1 paper

NM_001378454.1

p.V2731_V2734del4

c.8191_8201del12

1 paper

NM_001378454.1

p.V2731A

c.8192T>C

1 paper

NM_001378454.1

p.T2737_S2740del4

c.8209_8219del12