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.E15_E16insE

c.43_47ins3

Surrounding Variants

1 paper

NM_001378454.1

p.L12_E15Fs

c.36_44delinsGGAGGAGFs

5 papers

NM_001378454.1

p.E14V

c.41A>T

1 paper

NM_001378454.1

p.E14Q

c.40G>C

10 papers

NM_001378454.1

p.E14ins1

c.41_42insGGA

4 papers

NM_001378454.1

p.E23_E25ins1

c.69_74dup6

1 paper

NM_001378454.1

p.L12ins3

c.35_36ins9

3 papers

NM_001378454.1

p.E21_E25ins1

c.63_74dup12

1 paper

NM_001378454.1

p.L12ins5

c.35_36ins15

3 papers

NM_001378454.1

p.L12_E13del1

c.36_38delGGA

5 papers

NM_001378454.1

p.L12_E14del0

c.36_41del6

1 paper

NM_001378454.1

p.E21_E25del0

c.63_74del12

1 paper

NM_001378454.1

p.E20_E25del0

c.60_74del15