Varaico: Literature-Extracted Genetic Variants

Gene:NELFA

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
1–12 of 28 variants
1 paper
NM_005663.5
p.M1insFs
c.2dupT
1 paper
NM_005663.5
p.M1insFs
c.3dupG
1 paper
NM_005663.5
p.I29F
c.85A>T
1 paper
NM_005663.5
p.L33R
c.98T>G
1 paper
NM_005663.5
p.R42delFs
c.124_125delCG
1 paper
NM_005663.5
p.L81L
c.243C>T
1 paper
NM_005663.5
p.D85N
c.253G>A
1 paper
NM_005663.5
p.A94T
c.280G>A
1 paper
NM_005663.5
p.D95N
c.283G>A
1 paper
NM_005663.5
p.L124_R125del2
c.370_374del6
1 paper
NM_005663.5
p.L144F
c.432G>T
1 paper
NM_005663.5
p.K200insFs
c.600dupG
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