Varaico: Literature-Extracted Genetic Variants

MTRR

1,161 papers

RefSeq Summary

This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a fun...

Pfam Domains

Flavodoxin_1aa 6–142UCSCFlavodoxin

FAD_binding_1aa 267–492UCSCFAD binding domain

NAD_binding_1aa 542–662UCSCOxidoreductase NAD-binding domain

Gene Aliases

HGNC Name

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

HGNC Alias Symbol

cblE

Papers

RefSeq ID

Protein change

DNA change

1–12 of 264 variants

807 papers

NM_002454.3

p.I22M

c.66A>G

76 papers

NM_002454.3

p.S175L

c.524C>T

59 papers

NM_002454.3

p.S226F

c.677C>T

32 papers

NM_002454.3

p.K350R

c.1049A>G

27 papers

NM_002454.3

p.H595Y

c.1783C>T

19 papers

NM_002454.3

p.R415C

c.1243C>T

17 papers

NM_002454.3

p.S301_N302Splc

c.903+469T>C

15 papers

NM_002454.3

p.P450R

c.1349C>G

13 papers

NM_002454.3

p.E49E

c.147A>G

11 papers

NM_002454.3

p.S257T

c.769T>A

11 papers

NM_002454.3

p.S454L

c.1361C>T

10 papers

NM_002454.3

p.I278T

c.833T>C