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.Q1441*

c.4321C>T

Surrounding Variants

1 paper

NM_001378454.1

p.Y1439_Q1440insR

c.4315_4319ins3

2 papers

NM_001378454.1

p.G1436delins

c.4306_4307delinsGT

1 paper

NM_001378454.1

p.H1445Y

c.4333C>T

1 paper

NM_001378454.1

p.H1445L

c.4334A>T

1 paper

NM_001378454.1

p.K1434E

c.4300A>G

1 paper

NM_015120.4

p.T1433fs

c.4297_4298fs

1 paper

NM_015120.4

p.T1433delFs

c.4297delA

1 paper

NM_015120.4

p.H1432fs

c.4294_4295fs

1 paper

NM_001378454.1

p.E1450_E1451insCTC

c.4348_4352ins9

2 papers

NM_015120.4

p.H1432_T1433delFs

c.4296_4299del4

1 paper

NM_015120.4

p.T1428fs

c.4282_4283fs

1 paper

NM_015120.4

p.T1428insFs

c.4282dupA