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.S713del1

c.2137_2139delTCT

Surrounding Variants

1 paper

NM_001378454.1

p.S713F

c.2138C>T

2 papers

NM_015120.4

p.S714delFs

c.2141_2142delCT

NM_001378454.1

p.S713delFs

c.2138_2139delCT

1 paper

NM_001378454.1

p.T714delFs

c.2141delC

3 papers

NM_001378454.1

p.T714delFs

c.2141_2142delCT

1 paper

NM_001378454.1

p.T710S

c.2128A>T

1 paper

NM_001378454.1

p.G707R

c.2119G>A

1 paper

NM_015120.4

p.R720delFs

c.2159delG

1 paper

NM_015120.4

p.R720fs

c.2158_2159fs

1 paper

NM_001378454.1

p.T706_G707delFs

c.2118_2119delTG

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