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_001378454.1

p.D4012N

c.12034G>A

Surrounding Variants

2 papers

NM_015120.4

p.L4012fs

c.12034_12035fs

2 papers

NM_015120.4

p.L4012delFs

c.12034delC

1 paper

NM_001378454.1

p.R4014Q

c.12041G>A

1 paper

NM_001378454.1

p.Q4009fs

c.12025_12026fs

2 papers

NM_001378454.1

p.Q4009delFs

c.12025delC

NM_015120.4

p.Q4010delFs

c.12028delC

1 paper

NM_001378454.1

p.G4021A

c.12062G>C

3 papers

NM_001378454.1

p.L4001L

c.12001C>T

1 paper

NM_015120.4

p.L4029_L4030delFs

c.12086_12089del4

2 papers

NM_001378454.1

p.L4028P

c.12083T>C

1 paper

NM_001378454.1

p.R3995insFs

c.11983_11984insT

1 paper

NM_015120.4

p.R4031K

c.12092G>A

1 paper

NM_015120.4

p.Q4039*

c.12115C>T