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

1 paper

NM_001013838.3

p.L94P

c.281T>C

Surrounding Variants

1 paper

NM_001013838.3

p.V95L

c.283G>C

1 paper

NM_001013838.3

p.L107del1

c.319_320delCTG

1 paper

NM_001013838.3

p.L124V

c.370C>G

2 papers

NM_001013838.3

p.Q83_V84Splc

c.249+1G>T

1 paper

NM_001013838.3

p.Q83*

c.247C>T

1 paper

NM_001013838.3

p.P82S

c.244C>T

1 paper

NM_001013838.3

p.Q78H

c.234G>C

1 paper

NM_001013838.3

p.Q78H

c.234G>T

1 paper

NM_001013838.3

p.A76V

c.227C>T

1 paper

NM_001013838.3

p.L70M

c.208C>A

1 paper

NM_001013838.3

p.R142K

c.425G>A

1 paper

NM_001013838.3

p.S146L

c.437C>T