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.R204insFs

c.611_612insGT

Surrounding Variants

1 paper

NM_001013838.3

p.R204P

c.611G>C

3 papers

NM_001013838.3

p.R204Splc

c.611+5G>A

1 paper

NM_001013838.3

p.L201F

c.601C>T

1 paper

NM_001013838.3

p.H192Q

c.576T>A

4 papers

NM_001013838.3

p.V181M

c.541G>A

1 paper

NM_001013838.3

p.R204delFs

c.612delG

1 paper

NM_001013838.3

p.R204Splc

c.612-1G>A

2 papers

NM_001013838.3

p.D205fs

c.613_614fs

1 paper

NM_001013838.3

p.C224Y

c.671G>A

2 papers

NM_001013838.3

p.R174*

c.520C>T

1 paper

NM_001013838.3

p.P172L

c.515C>T

1 paper

NM_001013838.3

p.L229_S230Splc

c.687+5G>C