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.S771delFs

c.2311_2312delAG

Surrounding Variants

2 papers

NM_015120.4

p.I773delFs

c.2317_2318delAT

1 paper

NM_015120.4

p.P771delFs

c.2311_2312delCC

1 paper

NM_001378454.1

p.I772insFs

c.2315dupT

1 paper

NM_015120.4

p.K770T

c.2309A>C

2 papers

NM_015120.4

p.I773F

c.2317A>T

2 papers

NM_001378454.1

p.L773delFs

c.2317_2318delTT

2 papers

NM_015120.4

p.I773fs

c.2317_2318fs

1 paper

NM_015120.4

p.Q777*

c.2329C>T

1 paper

NM_001378454.1

p.Q766_R767delFs

c.2296_2299del4

1 paper

NM_001378454.1

p.Q776L

c.2327A>T

1 paper

NM_015120.4

p.S766fs

c.2296_2297fs

1 paper

NM_015120.4

p.S766_Q767delFs

c.2296_2299del4