Varaico: Literature-Extracted Genetic Variants

CARMIL2

152 papers

RefSeq Summary

This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein an...

Pfam Domains

Carm_PHaa 34–120UCSCCarmil pleckstrin homology domain

LRR_6aa 607–630UCSCLeucine Rich repeat

CARMIL_Caa 819–1112UCSCCARMIL C-terminus

Gene Aliases

HGNC Name

capping protein regulator and myosin 1 linker 2

HGNC Previous Symbol

RLTPR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_001013838.3

p.R50T

c.149G>C

Surrounding Variants

1 paper

NM_001013838.3

p.A51S

c.151G>T

1 paper

NM_001013838.3

p.A45S

c.133G>T

1 paper

NM_001013838.3

p.N41fs

c.121_122fs

1 paper

NM_001013838.3

p.G35R

c.103G>A

1 paper

NM_001013838.3

p.G35R

c.103G>C

1 paper

NM_001013838.3

p.E26K

c.76G>A

1 paper

NM_001013838.3

p.P22insFs

c.64_65insGT

1 paper

NM_001013838.3

p.P22S

c.64C>T

1 paper

NM_001013838.3

p.T17T

c.51C>T

1 paper

NM_001013838.3

p.L70M

c.208C>A

1 paper

NM_001013838.3

p.A76V

c.227C>T

1 paper

NM_001013838.3

p.Q78H

c.234G>C