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

7 papers

NM_001013838.3

p.G291Splc

c.871+1G>T

Surrounding Variants

1 paper

NM_001013838.3

p.G291R

c.871G>C

1 paper

NM_001013838.3

p.R290*

c.868C>T

1 paper

NM_001013838.3

p.E279V

c.836A>T

1 paper

NM_001013838.3

p.R278Q

c.833G>A

1 paper

NM_001013838.3

p.S296fs

c.886_887fs

1 paper

NM_001013838.3

p.S296_L299Fs

c.887_897delinsTGTTGTCCTGFs

1 paper

NM_001013838.3

p.S296_L299delins

c.887_897delinsTGTTGTCCTGG

5 papers

NM_001013838.3

p.D260fs

c.778_779fs

1 paper

NM_001013838.3

p.L299L

c.897C>T

1 paper

NM_001013838.3

p.R301delFs

c.902delG

1 paper

NM_001013838.3

p.R301fs

c.901_902fs

1 paper

NM_001013838.3

p.L306L

c.918G>C