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.Q727insFs

c.2179dupC

Surrounding Variants

1 paper

NM_001378454.1

p.Q727delFs

c.2179delC

1 paper

NM_001378454.1

p.Y726fs

c.2176_2177fs

1 paper

NM_015120.4

p.Y727fs

c.2179_2180fs

1 paper

NM_001378454.1

p.F725_Y726insFs

c.2173_2177dup5

6 papers

NM_015120.4

p.Y727insFs

c.2179dupT

NM_001378454.1

p.Y726insFs

c.2176dupT

1 paper

NM_001378454.1

p.F725delFs

c.2173delT

1 paper

NM_001378454.1

p.P722_E729ins2

c.2164_2187dup24

6 papers

NM_015120.4

p.K722*

c.2164A>T

1 paper

NM_001378454.1

p.K721_P722delFs

c.2162_2165del4

1 paper

NM_015120.4

p.R720delFs

c.2159delG

1 paper

NM_015120.4

p.R720fs

c.2158_2159fs

1 paper

NM_015120.4

p.S734R

c.2202T>A