Varaico: Literature-Extracted Genetic Variants

ABLIM1

69 papers

RefSeq Summary

This gene encodes a LIM zinc-binding domain-containing protein that binds to actin filaments and mediates interactions between actin and cytoplasmic targets. Alternatively spliced transcript variants ...

Pfam Domains

LIMaa 23–78UCSCLIM domain

LIMaa 82–137UCSCLIM domain

LIMaa 99–154UCSCLIM domain

LIMaa 150–205UCSCLIM domain

LIMaa 158–213UCSCLIM domain

LIMaa 209–261UCSCLIM domain

Gene Aliases

HGNC Name

actin binding LIM protein 1

HGNC Previous Symbol

LIMAB1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 64 variants

2 papers

NM_002313.7

p.R54H

c.161G>A

2 papers

NM_002313.7

p.V82Splc

c.245-3C>T

2 papers

NM_002313.7

p.S214A

c.640T>G

2 papers

NM_002313.7

p.S431A

c.1291T>G

2 papers

NM_002313.7

p.P484L

c.1451C>T

1 paper

NM_002313.7

p.M1_P2insFs

c.3_4insC

1 paper

NM_002313.7

p.C9*

c.27T>A

1 paper

NM_002313.7

p.S19G

c.55A>G

1 paper

NM_002313.7

p.T27A

c.79A>G

1 paper

NM_002313.7

p.S32L

c.95C>T

1 paper

NM_002313.7

p.R36S

c.108A>C

1 paper

NM_002313.7

p.R42W

c.124C>T