Varaico: Literature-Extracted Genetic Variants

Gene:NELFA
Variant:p.L124_R125del2

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.L124_R125del2
c.370_374del6
Surrounding Variants
1 paper
NM_005663.5
p.D95N
c.283G>A
1 paper
NM_005663.5
p.A94T
c.280G>A
1 paper
NM_005663.5
p.D85N
c.253G>A
1 paper
NM_005663.5
p.L81L
c.243C>T
1 paper
NM_005663.5
p.L144F
c.432G>T
1 paper
NM_005663.5
p.K200insFs
c.600dupG
1 paper
NM_005663.5
p.Q220delFs
c.658delG
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
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."