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

10 papers

NM_001378454.1

p.G3958Splc

c.11873-2A>T

NM_015120.4

p.G3959Splc

c.11876-2A>T

Surrounding Variants

3 papers

NM_001378454.1

p.G3958Splc

c.11873-3T>G

2 papers

NM_015120.4

p.S3961insFs

c.11881dupT

3 papers

NM_001378454.1

p.S3960fs

c.11878_11879fs

NM_015120.4

p.S3961fs

c.11881_11882fs

2 papers

NM_001378454.1

p.W3961insFs

c.11881dupT

1 paper

NM_001378454.1

p.F3962L

c.11884T>C

1 paper

NM_001378454.1

p.R3995insFs

c.11983_11984insT

3 papers

NM_001378454.1

p.L4001L

c.12001C>T

2 papers

NM_001378454.1

p.Q4009delFs

c.12025delC

NM_015120.4

p.Q4010delFs

c.12028delC

1 paper

NM_001378454.1

p.Q4009fs

c.12025_12026fs

2 papers

NM_015120.4

p.L4012delFs

c.12034delC

2 papers

NM_015120.4

p.L4012fs

c.12034_12035fs

2 papers

NM_001378454.1

p.D4012N

c.12034G>A