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.L229_S230Splc

c.688-1G>A

Surrounding Variants

3 papers

NM_001013838.3

p.S230del1

c.688_689delAGC

1 paper

NM_001013838.3

p.S230fs

c.688_689fs

1 paper

NM_001013838.3

p.S230_L238delFs

c.689_713del25

3 papers

NM_001013838.3

p.S230delFs

c.688_689delAG

1 paper

NM_001013838.3

p.L229_S230Splc

c.687+5G>C

1 paper

NM_001013838.3

p.C224Y

c.671G>A

2 papers

NM_001013838.3

p.D205fs

c.613_614fs

1 paper

NM_001013838.3

p.R204Splc

c.612-1G>A

1 paper

NM_001013838.3

p.R204delFs

c.612delG

5 papers

NM_001013838.3

p.D260fs

c.778_779fs

1 paper

NM_001013838.3

p.R278Q

c.833G>A

1 paper

NM_001013838.3

p.E279V

c.836A>T