Varaico: Literature-Extracted Genetic Variants

Gene:NELFA
Variant:p.Q220delFs

NELFA

22 papers

RefSeq Summary

This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a ma...

Pfam Domains

NELF-A_Naa 19–164UCSCNELF-A N-terminal domain

Gene Aliases

HGNC Name

negative elongation factor complex member A

HGNC Previous Symbol

WHSC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005663.5
p.Q220delFs
c.658delG
Surrounding Variants
1 paper
NM_005663.5
p.G253A
c.758G>C
1 paper
NM_005663.5
p.V265insFs
c.794dupT
1 paper
NM_005663.5
p.V282E
c.845T>A
1 paper
NM_005663.5
p.V293M
c.877G>A
1 paper
NM_005663.5
p.S335A
c.1003T>G
1 paper
NM_005663.5
p.K200insFs
c.600dupG
1 paper
NM_005663.5
p.R373W
c.1117C>T
1 paper
NM_005663.5
p.L381delFs
c.1141delG
1 paper
NM_005663.5
p.T398I
c.1193C>T
1 paper
NM_005663.5
p.P410T
c.1228C>A
1 paper
NM_005663.5
p.C471F
c.1412G>T
1 paper
NM_005663.5
p.E487delFs
c.1459delC
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