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.L863F

c.2587C>T

Surrounding Variants

1 paper

NM_001378454.1

p.G864*

c.2590G>T

1 paper

NM_015120.4

p.S863insFs

c.2588dupC

1 paper

NM_001378454.1

p.A859E

c.2576C>A

1 paper

NM_001378454.1

p.K866N

c.2598G>C

1 paper

NM_001378454.1

p.K866_P867insFs

c.2598_2599insT

1 paper

NM_001378454.1

p.K866N

c.2598G>T

1 paper

NM_001378454.1

p.S858F

c.2573C>T

1 paper

NM_015120.4

p.F871_Y872delFs

c.2611_2614del4

1 paper

NM_015120.4

p.F871fs

c.2611_2612fs

1 paper

NM_001378454.1

p.S855insFs

c.2564_2565ins22

1 paper

NM_001378454.1

p.Q873L

c.2618A>T

1 paper

NM_001378454.1

p.Q873H

c.2619G>C