Varaico: Literature-Extracted Genetic Variants

MRTFA

189 papers

RefSeq Summary

The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help tra...

Pfam Domains

RPELaa 25–48UCSCRPEL repeat

RPELaa 81–104UCSCRPEL repeat

RPELaa 125–148UCSCRPEL repeat

RPELaa 169–192UCSCRPEL repeat

SAPaa 346–382UCSCSAP domain

Gene Aliases

HGNC Name

myocardin related transcription factor A

HGNC Previous Symbol

MKL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_020831.6

p.L62L

c.184C>T

Surrounding Variants

1 paper

NM_020831.6

p.E50_Q57insFs

c.148_170dup23

1 paper

NM_020831.6

p.E53D

c.159G>C

1 paper

NM_020831.6

p.R68_N71del4

c.202_212del12

1 paper

NM_020831.6

p.E45*

c.133G>T

1 paper

NM_020831.6

p.Q43R

c.128A>G

1 paper

NM_020831.6

p.P42R

c.125C>G

1 paper

NM_020831.6

p.P40S

c.118C>T

1 paper

NM_020831.6

p.S37S

c.111T>A

1 paper

NM_020831.6

p.S37F

c.110C>T

1 paper

NM_020831.6

p.V34A

c.101T>C

1 paper

NM_020831.6

p.V32del1

c.94_96delCAC

1 paper

NM_020831.6

p.D28V

c.83A>T