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

3 papers

NM_001378454.1

p.G1341S

c.4021G>A

Surrounding Variants

1 paper

NM_015120.4

p.G1342fs

c.4024_4025fs

1 paper

NM_015120.4

p.G1342Fs

c.4025_4026delinsAFs

1 paper

NM_001378454.1

p.V1342G

c.4025T>G

1 paper

NM_015120.4

p.Q1347*

c.4039C>T

1 paper

NM_015120.4

p.H1351_S1352delFs

c.4053_4054delTA

1 paper

NM_015120.4

p.H1351fs

c.4051_4052fs

1 paper

NM_001378454.1

p.E1356D

c.4068G>C

1 paper

NM_001378454.1

p.E1356D

c.4068G>T

1 paper

NM_001378454.1

p.L1358P

c.4073T>C

1 paper

NM_001378454.1

p.K1359E

c.4075A>G

1 paper

NM_001378454.1

p.V1362_T1377del16

c.4084_4130del48

1 paper

NM_001378454.1

p.S1303del1

c.3907_3908delAGT