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

2 papers

NM_015120.4

p.E323*

c.967G>T

NM_001378454.1

p.E322*

c.964G>T

Surrounding Variants

2 papers

NM_001378454.1

p.E322K

c.964G>A

1 paper

NM_015120.4

p.N320_N321Fs

c.958_961delinsTCCFs

2 papers

NM_015120.4

p.S326L

c.977C>T

NM_001378454.1

p.S325L

c.974C>T

1 paper

NM_001378454.1

p.S325S

c.975G>A

1 paper

NM_001378454.1

p.P311insFs

c.932dupC

1 paper

NM_001378454.1

p.Q309*

c.925C>T

1 paper

NM_001378454.1

p.S308F

c.923C>T

1 paper

NM_015120.4

p.C337_D338delFs

c.1011_1012delTG

1 paper

NM_001378454.1

p.G307V

c.920G>T

1 paper

NM_015120.4

p.C337*

c.1011T>A

1 paper

NM_001378454.1

p.G307W

c.919G>T

1 paper

NM_015120.4

p.S304_T305insFs

c.911_914dup4