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.H669P

c.2006A>C

Surrounding Variants

1 paper

NM_001378454.1

p.H669R

c.2006A>G

1 paper

NM_015120.4

p.S667_T668insFs

c.2001_2002dupTA

1 paper

NM_001378454.1

p.V672G

c.2015T>G

1 paper

NM_015120.4

p.S666fs

c.1996_1997fs

2 papers

NM_015120.4

p.V665_S666insFs

c.1995_1996insCT

1 paper

NM_001378454.1

p.D674N

c.2020G>A

1 paper

NM_001378454.1

p.V664A

c.1991T>C

1 paper

NM_001378454.1

p.G660delins

c.1978delinsG

5 papers

NM_015120.4

p.R681*

c.2041C>T

NM_001378454.1

p.R680*

c.2038C>T

1 paper

NM_001378454.1

p.K658fs

c.1972_1973fs

2 papers

NM_001378454.1

p.Q681*

c.2041C>T

1 paper

NM_001378454.1

p.K658delFs

c.1973delA