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.P892fs

c.2674_2675fs

Surrounding Variants

1 paper

NM_001378454.1

p.P891S

c.2671C>T

1 paper

NM_001378454.1

p.P891L

c.2672C>T

1 paper

NM_015120.4

p.P892delFs

c.2676delT

1 paper

NM_015120.4

p.P892delFs

c.2675delC

1 paper

NM_015120.4

p.G893fs

c.2677_2678fs

1 paper

NM_001378454.1

p.P893fs

c.2677_2678fs

1 paper

NM_001378454.1

p.P893L

c.2678C>T

1 paper

NM_001378454.1

p.S888*

c.2663C>A

1 paper

NM_001378454.1

p.S888*

c.2663C>G

1 paper

NM_001378454.1

p.Q896*

c.2686C>T

1 paper

NM_015120.4

p.A885V

c.2654C>T

1 paper

NM_001378454.1

p.E883delFs

c.2649delG