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.M346_T354del9

c.1036_1061del27

Surrounding Variants

1 paper

NM_001378454.1

p.Y345*

c.1035T>A

1 paper

NM_001378454.1

p.Y345*

c.1035T>G

1 paper

NM_001378454.1

p.Y345C

c.1034A>G

1 paper

NM_001378454.1

p.M346insFs

c.1038dupG

1 paper

NM_001378454.1

p.S344T

c.1030T>A

1 paper

NM_001378454.1

p.C343delFs

c.1029delT

4 papers

NM_015120.4

p.W349*

c.1046G>A

NM_001378454.1

p.W348*

c.1043G>A

1 paper

NM_015120.4

p.K350_T351del1

c.1049_1051delAGA

2 papers

NM_001378454.1

p.W348*

c.1044G>A

NM_015120.4

p.W349*

c.1047G>A

1 paper

NM_001378454.1

p.L342_S344ins1

c.1024_1032dup9

3 papers

NM_015120.4

p.R352*

c.1054C>T

NM_001378454.1

p.R351*

c.1051C>T

1 paper

NM_001378454.1

p.D353N

c.1057G>A