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.S291T

c.872G>C

Surrounding Variants

1 paper

NM_001378454.1

p.S291_R292insC

c.871_875ins3

1 paper

NM_001378454.1

p.R292S

c.874C>A

2 papers

NM_001378454.1

p.R292C

c.874C>T

1 paper

NM_001378454.1

p.R292L

c.875G>T

1 paper

NM_015120.4

p.S291delFs

c.873delC

1 paper

NM_001378454.1

p.F293insFs

c.877dupT

1 paper

NM_001378454.1

p.L288_A289del2

c.862_866del6

1 paper

NM_001378454.1

p.S296C

c.887C>G

1 paper

NM_015120.4

p.S297F

c.890C>T

1 paper

NM_015120.4

p.S297_Q298Fs

c.890_892delinsAFs

1 paper

NM_001378454.1

p.Q297H

c.891G>C

1 paper

NM_001378454.1

p.Q297H

c.891G>T