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.Q920*

c.2758C>T

Surrounding Variants

1 paper

NM_001378454.1

p.Q920P

c.2759A>C

1 paper

NM_015120.4

p.Q920*

c.2758C>T

1 paper

NM_001378454.1

p.S918F

c.2753C>T

1 paper

NM_001378454.1

p.F917insFs

c.2749dupT

1 paper

NM_001378454.1

p.I916F

c.2746A>T

1 paper

NM_015120.4

p.L927_F928delFs

c.2779_2782del4

1 paper

NM_015120.4

p.F926insFs

c.2778dupT

2 papers

NM_015120.4

p.L927fs

c.2779_2780fs

1 paper

NM_001378454.1

p.L926P

c.2777T>C

1 paper

NM_001378454.1

p.K913_P914delFs

c.2737_2740del4

1 paper

NM_001378454.1

p.E929*

c.2785G>T

1 paper

NM_001378454.1

p.R911_E912delFs

c.2731_2734del4