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_015120.4

p.V649fs

c.1945_1946fs

Surrounding Variants

1 paper

NM_015120.4

p.E648delFs

c.1943delA

1 paper

NM_001378454.1

p.E644Q

c.1930G>C

1 paper

NM_001378454.1

p.N640_E643delFs

c.1919_1929del11

1 paper

NM_001378454.1

p.Q657_I661del5

c.1969_1982del15

1 paper

NM_015120.4

p.Q658delFs

c.1973_1974delAG

1 paper

NM_001378454.1

p.K658delFs

c.1973delA

1 paper

NM_001378454.1

p.K658fs

c.1972_1973fs

1 paper

NM_001378454.1

p.G660delins

c.1978delinsG

1 paper

NM_015120.4

p.E636*

c.1906G>T

1 paper

NM_015120.4

p.Q635H

c.1905A>T

3 papers

NM_015120.4

p.Q635*

c.1903C>T

NM_001378454.1

p.Q634*

c.1900C>T

2 papers

NM_001378454.1

p.Q633*

c.1897C>T