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

2 papers

NM_001013838.3

p.P154delFs

c.462delC

Surrounding Variants

1 paper

NM_001013838.3

p.C155delFs

c.463delT

1 paper

NM_001013838.3

p.C155fs

c.463_464fs

1 paper

NM_001013838.3

p.S146L

c.437C>T

1 paper

NM_001013838.3

p.R142K

c.425G>A

1 paper

NM_001013838.3

p.L124V

c.370C>G

2 papers

NM_001013838.3

p.G156Splc

c.467-1G>A

5 papers

NM_001013838.3

p.E163fs

c.487_488fs

3 papers

NM_001013838.3

p.E163_A164insFs

c.489_490insG

1 paper

NM_001013838.3

p.A164fs

c.490_491fs

1 paper

NM_001013838.3

p.P172L

c.515C>T

1 paper

NM_001013838.3

p.L107del1

c.319_320delCTG

2 papers

NM_001013838.3

p.R174*

c.520C>T