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.Q2759*

c.8275C>T

Surrounding Variants

1 paper

NM_001378454.1

p.P2760A

c.8278C>G

1 paper

NM_001378454.1

p.K2765K

c.8295A>G

1 paper

NM_015120.4

p.Q2767_K2768delFs

c.8301_8302delGA

1 paper

NM_015120.4

p.K2768fs

c.8302_8303fs

1 paper

NM_015120.4

p.S2770delFs

c.8309_8310delCT

1 paper

NM_001378454.1

p.G2748delFs

c.8242delG

1 paper

NM_015120.4

p.V2748fs

c.8242_8243fs

1 paper

NM_015120.4

p.S2770fs

c.8308_8309fs

1 paper

NM_001378454.1

p.S2769Y

c.8306C>A

2 papers

NM_015120.4

p.V2748delFs

c.8242delG

1 paper

NM_015120.4

p.P2772delFs

c.8315delC

2 papers

NM_001378454.1

p.S2772delFs

c.8315delC