Varaico: Literature-Extracted Genetic Variants

LIMS2

27 papers

RefSeq Summary

This gene encodes a member of a small family of focal adhesion proteins which interacts with ILK (integrin-linked kinase), a protein which effects protein-protein interactions with the extraceullar ma...

Pfam Domains

LIMaa 15–72UCSCLIM domain

LIMaa 76–131UCSCLIM domain

LIMaa 140–193UCSCLIM domain

LIMaa 198–253UCSCLIM domain

LIMaa 257–313UCSCLIM domain

Gene Aliases

HGNC Name

LIM zinc finger domain containing 2

HGNC Alias Symbols

PINCH2; PINCH-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001136037.4

p.P119L

c.356C>T

NM_001161403.3

p.P97L

c.290C>T

Surrounding Variants

1 paper

NM_001136037.4

p.N114K

c.342C>G

1 paper

NM_001136037.4

p.N114K

c.342C>A

1 paper

NM_001161403.3

p.I88_K89ins0

c.263_265dupTCA

1 paper

NM_001161403.3

p.K116_N117del1

c.348_350delTTC

1 paper

NM_001161403.3

p.P49T

c.145C>A

1 paper

NM_001161403.3

p.R17fs

c.49_50fs

1 paper

NM_001161403.3

p.R17insFs

c.49_50ins37

1 paper

NM_001161403.3

p.Q16E

c.46C>G

1 paper

NM_001161403.3

p.M6T

c.17T>C