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.V2643_S2646del4

c.7927_7937del12

Surrounding Variants

3 papers

NM_001378454.1

p.N2637insFs

c.7911dupC

2 papers

NM_015120.4

p.N2638fs

c.7912_7913fs

1 paper

NM_015120.4

p.Q2648_S2651del4

c.7942_7952del12

2 papers

NM_015120.4

p.N2637insFs

c.7911dupC

1 paper

NM_015120.4

p.Q2648*

c.7942C>T

1 paper

NM_001378454.1

p.N2636fs

c.7906_7907fs

1 paper

NM_001378454.1

p.L2648_H2651del4

c.7942_7952del12

1 paper

NM_015120.4

p.D2635insFs

c.7904_7905insC

1 paper

NM_015120.4

p.F2658_P2660delFs

c.7972_7978del7

1 paper

NM_015120.4

p.H2627_V2628insFs

c.7881_7882ins4

1 paper

NM_001378454.1

p.I2658_D2660delFs

c.7972_7978del7

1 paper

NM_001378454.1

p.K2625R

c.7874A>G