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.I2788fs

c.8362_8363fs

Surrounding Variants

1 paper

NM_001378454.1

p.L2788insFs

c.8363dupT

1 paper

NM_015120.4

p.T2787insFs

c.8361dupT

1 paper

NM_001378454.1

p.L2788fs

c.8362_8363fs

1 paper

NM_015120.4

p.E2785*

c.8353G>T

1 paper

NM_015120.4

p.G2792delFs

c.8374delG

1 paper

NM_015120.4

p.G2792fs

c.8374_8375fs

1 paper

NM_015120.4

p.K2784_E2785delFs

c.8352_8355del4

1 paper

NM_001378454.1

p.S2795insFs

c.8383_8384insA

1 paper

NM_015120.4

p.Q2795*

c.8383C>T

1 paper

NM_001378454.1

p.N2779S

c.8336A>G

2 papers

NM_015120.4

p.K2798_L2799insFs

c.8394_8395insA

1 paper

NM_015120.4

p.S2779_Q2782del4

c.8335_8345del12