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.E883*

c.2647G>T

Surrounding Variants

1 paper

NM_015120.4

p.E883_E884delFs

c.2648_2651del4

2 papers

NM_015120.4

p.T882insFs

c.2646dupT

1 paper

NM_001378454.1

p.E883*

c.2647G>T

1 paper

NM_001378454.1

p.E883_A884delFs

c.2648_2651del4

1 paper

NM_001378454.1

p.E883delFs

c.2649delG

1 paper

NM_015120.4

p.A885V

c.2654C>T

1 paper

NM_015120.4

p.L881_T882delFs

c.2643_2646del4

1 paper

NM_001378454.1

p.P876L

c.2627C>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.T874S

c.2621C>G

2 papers

NM_015120.4

p.T875S

c.2623A>T

NM_001378454.1

p.T874S

c.2620A>T