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

1 paper

NM_014945.5

p.S372F

c.1115C>T

Surrounding Variants

1 paper

NM_014945.5

p.A371T

c.1111G>A

1 paper

NM_014945.5

p.L366F

c.1096C>T

2 papers

NM_014945.5

p.R393C

c.1177C>T

1 paper

NM_014945.5

p.G402Splc

c.1204+41G>A

2 papers

NM_014945.5

p.S349L

c.1046C>T

1 paper

NM_014945.5

p.S405G

c.1213A>G

1 paper

NM_014945.5

p.G406S

c.1216G>A

3 papers

NM_014945.5

p.Y411C

c.1232A>G

1 paper

NM_014945.5

p.S419S

c.1257C>T

1 paper

NM_014945.5

p.S424C

c.1271C>G

1 paper

NM_014945.5

p.G345D

c.1034G>A

1 paper

NM_014945.5

p.E342Q

c.1024G>C