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_001378454.1

p.S838L

c.2513C>T

Surrounding Variants

1 paper

NM_001378454.1

p.A839insFs

c.2515dupG

1 paper

NM_001378454.1

p.S838insFs

c.2512dupT

1 paper

NM_001378454.1

p.K836fs

c.2506_2507fs

1 paper

NM_001378454.1

p.E832G

c.2495A>G

2 papers

NM_001378454.1

p.D845N

c.2533G>A

1 paper

NM_001378454.1

p.L830_P831insFs

c.2490_2491insT

1 paper

NM_015120.4

p.L831_P832delins

c.2493_2495delinsGGC

1 paper

NM_001378454.1

p.L830ins4

c.2489_2490ins12

1 paper

NM_001378454.1

p.L830L

c.2488C>T

1 paper

NM_001378454.1

p.S828_H829insFs

c.2484_2485insGA

1 paper

NM_001378454.1

p.S828I

c.2483G>T

1 paper

NM_001378454.1

p.A852del1

c.2554_2556delGCT