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.L683insFs

c.2048_2049insC

Surrounding Variants

1 paper

NM_001378454.1

p.L683W

c.2048T>G

1 paper

NM_001378454.1

p.P684R

c.2051C>G

2 papers

NM_001378454.1

p.Q681*

c.2041C>T

5 papers

NM_015120.4

p.R681*

c.2041C>T

NM_001378454.1

p.R680*

c.2038C>T

3 papers

NM_015120.4

p.H688delFs

c.2064delT

NM_001378454.1

p.H687delFs

c.2061delT

1 paper

NM_001378454.1

p.L688delFs

c.2064delA

1 paper

NM_015120.4

p.T690delFs

c.2070delT

1 paper

NM_015120.4

p.D691fs

c.2071_2072fs

1 paper

NM_001378454.1

p.D674N

c.2020G>A

1 paper

NM_001378454.1

p.K694E

c.2080A>G

1 paper

NM_001378454.1

p.V672G

c.2015T>G

5 papers

NM_015120.4

p.S697*

c.2090C>A

NM_001378454.1

p.S696*

c.2087C>A