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.Y1287ins1

c.3859_3860insTAT

Surrounding Variants

1 paper

NM_015120.4

p.K1293fs

c.3877_3878fs

1 paper

NM_001378454.1

p.P1279R

c.3836C>G

1 paper

NM_001378454.1

p.T1276A

c.3826A>G

1 paper

NM_001378454.1

p.Q1298*

c.3892C>T

1 paper

NM_001378454.1

p.V1272I

c.3814G>A

1 paper

NM_001378454.1

p.Q1299Q

c.3897G>A

6 papers

NM_015120.4

p.S1301*

c.3902C>A

NM_001378454.1

p.S1300*

c.3899C>A

1 paper

NM_015120.4

p.E1271K

c.3811G>A

1 paper

NM_001378454.1

p.S1303del1

c.3907_3908delAGT

1 paper

NM_001378454.1

p.D1255G

c.3764A>G

1 paper

NM_001378454.1

p.D1255_N1256insCTT

c.3763_3767ins9

1 paper

NM_015120.4

p.Q1252*

c.3754C>T