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.D452N

c.1354G>A

Surrounding Variants

1 paper

NM_014945.5

p.S476L

c.1427C>T

1 paper

NM_014945.5

p.S476S

c.1428G>A

1 paper

NM_014945.5

p.P477L

c.1430C>T

1 paper

NM_014945.5

p.P494_K495ins12

c.1482_1483ins36

1 paper

NM_014945.5

p.E507G

c.1520A>G

1 paper

NM_014945.5

p.P445T

c.1333C>A

1 paper

NM_014945.5

p.D437G

c.1310A>G

1 paper

NM_014945.5

p.S536Fs

c.1606delinsGTFs

1 paper

NM_014945.5

p.D540G

c.1619A>G

1 paper

NM_014945.5

p.S424C

c.1271C>G

1 paper

NM_014945.5

p.S419S

c.1257C>T

3 papers

NM_014945.5

p.Y411C

c.1232A>G