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.T1136I

c.3407C>T

Surrounding Variants

2 papers

NM_015120.4

p.S1142*

c.3425C>A

5 papers

NM_015120.4

p.S1142*

c.3425C>G

3 papers

NM_001378454.1

p.T1142S

c.3425C>G

1 paper

NM_015120.4

p.A1131G

c.3392C>G

1 paper

NM_001378454.1

p.L1129L

c.3385C>T

1 paper

NM_001378454.1

p.S1152_H1155del4

c.3454_3464del12

1 paper

NM_001378454.1

p.H1155D

c.3463C>G

2 papers

NM_015120.4

p.H1156Y

c.3466C>T

1 paper

NM_015120.4

p.Q1157*

c.3469C>T

2 papers

NM_015120.4

p.Q1158*

c.3472C>T

1 paper

NM_015120.4

p.E1114fs

c.3340_3341fs

1 paper

NM_015120.4

p.E1114delFs

c.3340delG