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.S443T

c.1327T>A

Surrounding Variants

2 papers

NM_001317026.3

p.T409Splc

c.1226+1G>T

NM_001013838.3

p.T445Splc

c.1334+1G>T

4 papers

NM_001013838.3

p.L432P

c.1295T>C

1 paper

NM_001013838.3

p.S425F

c.1274C>T

1 paper

NM_001013838.3

p.L416insFs

c.1248dupC

1 paper

NM_001013838.3

p.L416fs

c.1246_1247fs

1 paper

NM_001013838.3

p.T445Splc

c.1335-2A>C

1 paper

NM_001013838.3

p.A450T

c.1348G>A

1 paper

NM_001013838.3

p.G407G

c.1221T>C

1 paper

NM_001013838.3

p.A453T

c.1357G>A

3 papers

NM_001013838.3

p.Q455_R465del0

c.1364_1393del30

1 paper

NM_001013838.3

p.R462L

c.1385G>T

1 paper

NM_001317026.3

p.L428del1

c.1282_1283delCTG