Varaico: Literature-Extracted Genetic Variants

Gene:MAFF
Variant:p.S45T

MAFF

28 papers

RefSeq Summary

The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that lacks a transactivation domain. It is known to bind the US-2 DNA element in the promoter of the oxytocin rec...

Pfam Domains

bZIP_Mafaa 24–115UCSCbZIP Maf transcription factor

Gene Aliases

HGNC Name

MAF bZIP transcription factor F

HGNC Alias Symbol

hMafF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012323.4
p.S45T
c.133T>A
Surrounding Variants
1 paper
NM_012323.4
p.A46T
c.136G>A
1 paper
NM_012323.4
p.T50_L52delFs
c.149_155del7
1 paper
NM_012323.4
p.R35C
c.103C>T
1 paper
NM_012323.4
p.S33L
c.98C>T
1 paper
NM_012323.4
p.S84T
c.250T>A
1 paper
NM_012323.4
p.E85ins2
c.253_254ins6
1 paper
NM_012323.4
p.R88R
c.264C>T
1 paper
NM_012323.4
p.R95S
c.283C>A
1 paper
NM_012323.4
p.G149_D155del7
c.445_464del21
1 paper
NM_012323.4
p.D155N
c.463G>A
1 paper
NM_012323.4
p.D155H
c.463G>C
1 paper
NM_012323.4
p.L6Q
c.17T>A
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