Varaico: Literature-Extracted Genetic Variants

MITD1

22 papers

RefSeq Summary

Abscission, the separation of daughter cells at the end of cytokinesis, is effected by endosomal sorting complexes required for transport III (ESCRT-III). The protein encoded by this gene functions as...

Pfam Domains

MITaa 13–77UCSCMIT (microtubule interacting and transport) domain

MIT_Caa 100–242UCSCPhospholipase D-like domain at C-terminus of MIT

Gene Aliases

HGNC Name

microtubule interacting and trafficking domain containing 1

HGNC Alias Symbol

LOC129531

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_138798.3

p.E73D

c.219A>C

Surrounding Variants

1 paper

NM_138798.3

p.E73D

c.219A>T

1 paper

NM_138798.3

p.E73A

c.218A>C

2 papers

NM_138798.3

p.K76N

c.228G>T

2 papers

NM_138798.3

p.K76N

c.228G>C

1 paper

NM_138798.3

p.K76del1

c.226_228delCTT

1 paper

NM_138798.3

p.I65fs

c.193_194fs

1 paper

NM_138798.3

p.I65insFs

c.193dupA

1 paper

NM_138798.3

p.D85Splc

c.253+594T>C

1 paper

NM_138798.3

p.Y103C

c.308A>G

1 paper

NM_138798.3

p.R108R

c.324C>T

1 paper

NM_138798.3

p.E121G

c.362A>G

1 paper

NM_138798.3

p.D122Y

c.364G>T