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

2 papers

NM_015120.4

p.S577*

c.1730C>A

NM_001378454.1

p.S576*

c.1727C>A

Surrounding Variants

2 papers

NM_015120.4

p.S577*

c.1730C>G

NM_001378454.1

p.S576*

c.1727C>G

1 paper

NM_001378454.1

p.S576_S582del0

c.1727_1744del18

1 paper

NM_015120.4

p.H576delFs

c.1727delA

3 papers

NM_015120.4

p.R579delFs

c.1735delA

NM_001378454.1

p.R578delFs

c.1732delA

1 paper

NM_001378454.1

p.R578fs

c.1732_1733fs

1 paper

NM_001378454.1

p.R578fs

c.1732_1733fs

1 paper

NM_015120.4

p.H576_P582del0

c.1727_1744del18

1 paper

NM_015120.4

p.S575C

c.1724C>G

1 paper

NM_001378454.1

p.S573_S576del4

c.1717_1727del12

1 paper

NM_001378454.1

p.T569I

c.1706C>T

1 paper

NM_001378454.1

p.F584I

c.1750T>A

1 paper

NM_001378454.1

p.Q586E

c.1756C>G