Varaico: Literature-Extracted Genetic Variants

ABLIM3

60 papers

RefSeq Summary

This gene encodes a member of the actin-binding LIM (abLIM) family of proteins. These proteins are characterized by an N-terminal LIM domain and a C-terminal dematin-like domain. The encoded protein i...

Pfam Domains

LIMaa 23–78UCSCLIM domain

LIMaa 82–138UCSCLIM domain

LIMaa 151–206UCSCLIM domain

LIMaa 210–269UCSCLIM domain

AbLIM_anchoraa 273–405UCSCPutative adherens-junction anchoring region of AbLIM

AbLIM_anchoraa 273–633UCSCPutative adherens-junction anchoring region of AbLIM

Gene Aliases

HGNC Name

actin binding LIM protein family member 3

HGNC Alias Symbol

KIAA0843

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_014945.5

p.T232A

c.694A>G

Surrounding Variants

2 papers

NM_014945.5

p.T232I

c.695C>T

1 paper

NM_014945.5

p.Y229H

c.685T>C

1 paper

NM_014945.5

p.K227E

c.679A>G

2 papers

NM_014945.5

p.R238C

c.712C>T

1 paper

NM_014945.5

p.R215*

c.643C>T

1 paper

NM_014945.5

p.E199G

c.596A>G