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

1–12 of 235 variants

11 papers

NM_001013838.3

p.Q575E

c.1723C>G

10 papers

NM_001013838.3

p.L372R

c.1115T>G

7 papers

NM_001013838.3

p.G291Splc

c.871+1G>T

6 papers

NM_001013838.3

p.R50T

c.149G>C

6 papers

NM_001013838.3

p.R385T

c.1154G>C

6 papers

NM_001013838.3

p.L525Q

c.1574T>A

6 papers

NM_001013838.3

p.N530K

c.1590C>A

5 papers

NM_001013838.3

p.E163fs

c.487_488fs

5 papers

NM_001013838.3

p.D260fs

c.778_779fs

5 papers

NM_001013838.3

p.N530K

c.1590C>G

5 papers

NM_001013838.3

p.L639H

c.1916T>A

5 papers

NM_001013838.3

p.Q853*

c.2557C>T