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.H298Y

c.892C>T

Surrounding Variants

1 paper

NM_001378454.1

p.Q297H

c.891G>C

1 paper

NM_001378454.1

p.Q297H

c.891G>T

1 paper

NM_001378454.1

p.P299_L300del2

c.895_899del6

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_015120.4

p.I302fs

c.904_905fs

1 paper

NM_015120.4

p.I302delFs

c.906delA

1 paper

NM_001378454.1

p.G302delFs

c.905delG

1 paper

NM_001378454.1

p.G302delFs

c.906delC

1 paper

NM_001378454.1

p.G302_S303delFs

c.906_907delCA

1 paper

NM_001378454.1

p.G302G

c.906C>A