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

4 papers

NM_015120.4

p.S910*

c.2729C>A

NM_001378454.1

p.S909*

c.2726C>A

Surrounding Variants

4 papers

NM_015120.4

p.S910*

c.2729C>G

NM_001378454.1

p.S909*

c.2726C>G

1 paper

NM_001378454.1

p.R911_E912delFs

c.2731_2734del4

1 paper

NM_001378454.1

p.K913_P914delFs

c.2737_2740del4

1 paper

NM_001378454.1

p.S906_F907del2

c.2716_2720del6

1 paper

NM_001378454.1

p.P904L

c.2711C>T

1 paper

NM_001378454.1

p.F917insFs

c.2749dupT

1 paper

NM_001378454.1

p.I916F

c.2746A>T

1 paper

NM_015120.4

p.S903*

c.2708C>A

1 paper

NM_015120.4

p.S903*

c.2708C>G

1 paper

NM_001378454.1

p.S902L

c.2705C>T

1 paper

NM_001378454.1

p.S918F

c.2753C>T

1 paper

NM_015120.4

p.Q920*

c.2758C>T